{"Name":"Levy-Hollister syndrome","DiseaseID__c":"GARD:0006848","id":6848,"encodedName":"levy-hollister-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Levy-Hollister syndrome","Xref_IDs__c":"23817003; C0265269; C538132; DOID:0050331; DOID:0081370; MEDGEN:78545; MONDO:0007872; OMIMPS:149730; ORPHA:2363","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007872","Disease_Description__c":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association.","GARD_Name__c":"Levy-Hollister syndrome","GARD_Synonym__c":"lacrimo-auriculo-dento-digital syndrome; lacrimoauriculodento-digital syndrome; lacrimoauriculodentodigital syndrome; lacrimoauriculoradiodental syndrome; ladd; ladd syndrome; lard syndrome; levy hollister syndrome","Curated_Disease_Description_Source__c":"MONDO:0007872","Curated_Disease_Description__c":"Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). The lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears. Ears that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss). People with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors). Hand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement. People with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2363","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007872","ORPHANET_ID__c":"ORPHA:2363","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome lácrimo-aurículo-dento-digital","Spanish_Description_Source__c":"ORPHA:2363","Spanish_Description__c":"Es un síndrome dismórfico/ con anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por hipoplasia, aplasia o atresia del sistema lagrimal, anomalías del oído con pérdida auditiva neurosensorial o mixta, hipoplasia, aplasia o atresia de las glándulas salivales, anomalías dentales y malformaciones de los dedos. Los pacientes presentan obstrucción de los conductos lagrimales nasales que puede provocar epífora, y conjuntivitis crónica por alacrimia. La aplasia o hipoplasia de las glándulas salivales provoca sequedad en la boca y la aparición temprana de caries dentales graves. La afectación dental incluye una erupción dental tardía, incisivos laterales maxilares pequeños y en forma de clavija y displasia leve del esmalte. Las características digitales son variables e incluyen clinodactilia del quinto dedo de la mano, duplicación de la falange distal del pulgar, pulgar trifalángico y/o sindactilia. También se ha descrito la asociación de aplasia radial unilateral y sinostosis radio-cubital.","Spanish_Disease_Name__c":"síndrome lácrimo-aurículo-dento-digital","Spanish_GARD_Synonym__c":"síndrome de levy hollister; síndrome ladd; síndrome lard; síndrome lácrimo-aurículo-radio-dental","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). The lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears. Ears that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss). People with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors). Hand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement. People with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members.","Curated_Disease_Description_Source__c":"MONDO:0007872","GARD_Synonym__c":"lacrimo-auriculo-dento-digital syndrome; lacrimoauriculodento-digital syndrome; lacrimoauriculodentodigital syndrome; lacrimoauriculoradiodental syndrome; ladd; ladd syndrome; lard syndrome; levy hollister syndrome","Name":"Levy-Hollister syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2363"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2363"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265269"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006848","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265269","Source__c":"C0265269","Xref__c":"C0265269"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS149730","Source__c":"MONDO:0007872","Xref__c":"OMIMPS:149730"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050331","Source__c":"MONDO:0007872","Xref__c":"DOID:0050331"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=23817003","Source__c":"C0265269; MONDO:0007872","Xref__c":"23817003"},{"URL__c":"https://www.orpha.net/en/disease/detail/2363","Source__c":"C0265269; MONDO:0007872; ORPHA:2363","Xref__c":"ORPHA:2363"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78545","Source__c":"C0265269","Xref__c":"MEDGEN:78545"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081370","Source__c":"MONDO:0007872","Xref__c":"DOID:0081370"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538132","Source__c":"MONDO:0007872","Xref__c":"C538132"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007872","Source__c":"GARD:0006848","Xref__c":"MONDO:0007872"},{"URL__c":"https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome","Source__c":"GARD:0006848","Xref__c":"https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGF10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgf10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGFR2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgfr2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGFR3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgfr3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"No identifiable superior and/or inferior lacrimal punctum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001092","HPO_Synonym__c":"Absent lacrimal gland puncta; Absent lacrimal openings; Absent lacrimal puncta; Aplasia of lacrimal puncta; Lacrimal puncta aplasia; Lacrimal punctum, absence","HPO_Name__c":"Absent lacrimal punctum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the epiglottis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005349","HPO_Synonym__c":"Hypoplastic epiglottis","HPO_Name__c":"Hypoplasia of the epiglottis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002164","HPO_Synonym__c":"Atypical nail growth; Dysplastic nails; Onychodysplasia","HPO_Name__c":"Nail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea and conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001096","HPO_Name__c":"Keratoconjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ingrowth of new blood vessels into the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011496","HPO_Synonym__c":"Corneal vascularization; Limbal neovascularization; New blood vessel formation in cornea","HPO_Name__c":"Corneal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030084","HPO_Synonym__c":"Permanent curving of the finger","HPO_Name__c":"Clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A morphological abnormality of a digit, i.e., of a finger or toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011297","HPO_Synonym__c":"Abnormality of digit; Abnormality of fingers or toes; Digital anomalies","HPO_Name__c":"Abnormal digit morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the lacrimal puncta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007892","HPO_Synonym__c":"Hypoplasia of the lacrimal puncta; Hypoplastic lacrimal puncta","HPO_Name__c":"Hypoplasia of the lacrimal punctum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002984","HPO_Synonym__c":"Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone","HPO_Name__c":"Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032107","HPO_Name__c":"Limbal stem cell deficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dryness of the mouth due to salivary gland dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000217","HPO_Synonym__c":"Dry mouth; Dry mouth syndrome; Reduced salivation","HPO_Name__c":"Xerostomia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000495","HPO_Synonym__c":"Corneal erosions, recurrent; Recurrent breakdown of clear protective layer of eye; Recurrent corneal ulceration","HPO_Name__c":"Recurrent corneal erosions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000410","HPO_Synonym__c":"Hearing loss, mixed; Mixed hearing impairment; Mixed hearing loss","HPO_Name__c":"Mixed hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010286","HPO_Synonym__c":"Abnormality of the salivary glands","HPO_Name__c":"Abnormal salivary gland morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000378","HPO_Synonym__c":"Cup-shaped ears; Cupped ear; Simple, cup-shaped ears","HPO_Name__c":"Cupped ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital defect of development characterized by absence of the lacrimal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007656","HPO_Synonym__c":"Absent tear gland","HPO_Name__c":"Lacrimal gland aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes deviated outward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000577","HPO_Synonym__c":"Outward facing eye ball","HPO_Name__c":"Exotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \\\"symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001159","HPO_Synonym__c":"Webbed fingers or toes","HPO_Name__c":"Syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a bicornuate uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000813","HPO_Synonym__c":"Heart shaped uterus; Heart-shaped uterus; Uterus bicornis","HPO_Name__c":"Bicornuate uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012804","HPO_Synonym__c":"Corneal ulcer; Corneal ulcerations","HPO_Name__c":"Corneal ulceration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A increased anteroposterior thickness of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011487","HPO_Name__c":"Increased corneal thickness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000458","HPO_Synonym__c":"Loss of smell; Lost smell","HPO_Name__c":"Anosmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal structure of the first digit of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001172","HPO_Synonym__c":"Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity","HPO_Name__c":"Abnormal thumb morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009777","HPO_Synonym__c":"Absent thumb; Absent thumbs; Aplasia of the thumb; Thumb aplasia","HPO_Name__c":"Absent thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011481","HPO_Synonym__c":"Abnormality of the lacrimal canaliculus; Abnormality of the lacrimal duct","HPO_Name__c":"Abnormal lacrimal duct morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital defect resulting in absence of the lacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007925","HPO_Synonym__c":"Absent tear duct","HPO_Name__c":"Lacrimal duct aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009942","HPO_Synonym__c":"Complete/partial duplication of phalanges of the thumb; Duplicated thumbs; Duplication of phalanx of thumb","HPO_Name__c":"Duplication of thumb phalanx","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012108","HPO_Name__c":"Open angle glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability of the cornea to respond to stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012155","HPO_Synonym__c":"Corneal hypaesthesia; Corneal hypesthesia; Reduced corneal sensation","HPO_Name__c":"Decreased corneal sensation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011482","HPO_Synonym__c":"Abnormality of the lacrimal gland","HPO_Name__c":"Abnormal lacrimal gland morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2363","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Orthopedics","Otolaryngology","Odontology","Pediatrics"],"Account":["Dermatology","Congenital limb malformation","Ectodermal dysplasia"]},"synonyms":["lacrimo-auriculo-dento-digital syndrome"," lacrimoauriculodento-digital syndrome"," lacrimoauriculodentodigital syndrome"," lacrimoauriculoradiodental syndrome"," ladd"," ladd syndrome"," lard syndrome"," levy hollister syndrome"]}