{"Name":"Ectrodactyly-ectodermal dysplasia-clefting syndrome","DiseaseID__c":"GARD:0002076","id":2076,"encodedName":"ectrodactyly-ectodermal-dysplasia-clefting-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ectrodactyly-ectodermal dysplasia-clefting syndrome","Xref_IDs__c":"39788007; C0406704; C148261; C536189; DOID:0060782; MEDGEN:98357; MONDO:0010004; ORPHA:1896","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010004","Disease_Description__c":"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).","GARD_Name__c":"Ectrodactyly-ectodermal dysplasia-clefting syndrome","GARD_Synonym__c":"ectodermal dysplasia with ectrodactyly and cleft lip or palate; ectrodactyly ectodermal dysplasia cleft lip/palate; ectrodactyly-cleft lip/palate syndrome; ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate; ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome; ectrodactyly-ectodermal dysplasia-cleft syndrome; ectrodactyly-ectodermal dysplasia-clefting (eec) syndrome; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; eec - ectodermal dysplasia with ectrodactyly and cleft lip or palate; eec syndrome; rudiger syndrome; rudiger syndrome 1; rudiger's syndrome; walker-clodius syndrome","Curated_Disease_Description_Source__c":"GARD:0002076","Curated_Disease_Description__c":"EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by genetic changes in the TP63 gene. The of individuals with EEC syndrome are thought to have a genetic change in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:1896","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010004","ORPHANET_ID__c":"ORPHA:1896","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome eec","Spanish_Description_Source__c":"ORPHA:1896","Spanish_Description__c":"El síndrome EEC es un trastorno genético del desarrollo caracterizado por: ectrodactilia, displasia ectodérmica, y hendiduras orofaciales (labio leporino/paladar hendido).","Spanish_Disease_Name__c":"síndrome eec","Spanish_GARD_Synonym__c":"ectrodactilia-displasia ectodérmica-fisura labiopalatina","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":"EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by genetic changes in the TP63 gene. The of individuals with EEC syndrome are thought to have a genetic change in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0002076","GARD_Synonym__c":"ectodermal dysplasia with ectrodactyly and cleft lip or palate; ectrodactyly ectodermal dysplasia cleft lip/palate; ectrodactyly-cleft lip/palate syndrome; ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate; ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome; ectrodactyly-ectodermal dysplasia-cleft syndrome; ectrodactyly-ectodermal dysplasia-clefting (eec) syndrome; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; eec - ectodermal dysplasia with ectrodactyly and cleft lip or palate; eec syndrome; rudiger syndrome; rudiger syndrome 1; rudiger's syndrome; walker-clodius syndrome","Name":"Ectrodactyly-ectodermal dysplasia-clefting syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"},{"Account_Name__c":"The Ectodermal Dysplasia Society","Website__c":"https://edsociety.co.uk/"},{"Account_Name__c":"Canadian Ectodermal Dysplasia Syndromes Association","Website__c":"https://ectodermaldysplasia.ca/"}],"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1896"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1896"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002076","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK43797","Source__c":"Gene Review","Xref__c":"NBK43797"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536189","Source__c":"MONDO:0010004","Xref__c":"C536189"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98357","Source__c":"C0406704","Xref__c":"MEDGEN:98357"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C148261","Source__c":"C0406704; MONDO:0010004","Xref__c":"C148261"},{"URL__c":"https://www.orpha.net/en/disease/detail/1896","Source__c":"C0406704; MONDO:0010004; ORPHA:1896","Xref__c":"ORPHA:1896"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060782","Source__c":"MONDO:0010004","Xref__c":"DOID:0060782"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=39788007","Source__c":"C0406704; MONDO:0010004","Xref__c":"39788007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406704","Source__c":"C0406704","Xref__c":"C0406704"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010004","Source__c":"GARD:0002076","Xref__c":"MONDO:0010004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TP63","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp63","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","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:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the nasolacrimal sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000620","HPO_Synonym__c":"Dacrocystitis; Infection of the lacrimal sac","HPO_Name__c":"Dacryocystitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the eye, parts of the eye or the periorbital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100533","HPO_Synonym__c":"Inflammatory abnormality of the eye; Ocular inflammation","HPO_Name__c":"Inflammatory abnormality of the eye","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100257","HPO_Synonym__c":"Cleft hand; Lobster claw hand","HPO_Name__c":"Ectrodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absence of one or more teeth from the normal series by a failure to develop","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009804","HPO_Synonym__c":"Decreased tooth count; Dental agenesis; Failure of development of some teeth; Reduced number of teeth; Teeth, agenesis","HPO_Name__c":"Tooth agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000498","HPO_Synonym__c":"Cellulitis of eyelids; Inflammation of eyelids","HPO_Name__c":"Blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the thymus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000778","HPO_Synonym__c":"Small thymus; Thymic hypoplasia; Thymus hypoplasia","HPO_Name__c":"Hypoplasia of the thymus","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the breasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010311","HPO_Synonym__c":"Absent/small breasts; Absent/underdeveloped breasts","HPO_Name__c":"Aplasia/Hypoplasia of the breasts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002665","HPO_Synonym__c":"Cancer of lymphatic system","HPO_Name__c":"Lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000679","HPO_Synonym__c":"Taurodont; Taurodontism","HPO_Name__c":"Taurodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006709","HPO_Synonym__c":"Absent/rudimentary nipples; Absent/small nipples; Absent/underdeveloped nipples; Nipples absent or rudimentary","HPO_Name__c":"Aplasia/Hypoplasia of the nipples","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000370","HPO_Synonym__c":"Middle ear abnormalities; Middle ear abnormality","HPO_Name__c":"Abnormality of the middle ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","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:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","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:1896","HPO_Frequency__c":"Frequent (30-79%)","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:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001803","HPO_Synonym__c":"Nail pits; Nail pitting; Pitted nails","HPO_Name__c":"Nail pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","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:1896","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:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003764","HPO_Synonym__c":"Mole; Naevus","HPO_Name__c":"Nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000968","HPO_Name__c":"Ectodermal dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","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:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012165","HPO_Name__c":"Oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally diminished capacity to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000966","HPO_Synonym__c":"Decreased ability to sweat; Decreased sweating; Impaired sweating; Inadequate sweating; Oligohidrosis; Sweating, decreased","HPO_Name__c":"Hypohidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair shafts are rough in texture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002208","HPO_Synonym__c":"Coarse hair; Coarse hair texture","HPO_Name__c":"Coarse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007513","HPO_Synonym__c":"Fair skin; Pale pigmentation","HPO_Name__c":"Generalized hypopigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplastic/small or absent thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009601","HPO_Synonym__c":"Absent or hypoplastic thumbs; Absent/hypoplastic thumb; Absent/hypoplastic thumbs; Absent/small thumb; Absent/underdeveloped thumb; Aplasia/hypoplasia of thumbs; Aplastic/hypoplastic thumbs; Hypoplastic to aplastic thumbs; Hypoplastic/absent thumb; Thumb aplasia/hypoplasia","HPO_Name__c":"Aplasia/Hypoplasia of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital anomaly characterized by closure or failure to develop an opening in the urethra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000068","HPO_Synonym__c":"Absent urethral opening; Urethral opening absent","HPO_Name__c":"Urethral atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","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:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased density/number of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045075","HPO_Synonym__c":"Hypotrichosis of eyebrow; Sparse eyebrow; Sparse eyebrows","HPO_Name__c":"Sparse eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","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:1896","HPO_Frequency__c":"Occasional (5-29%)","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:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hair whose growth is slower than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002217","HPO_Synonym__c":"Delayed hair growth; Poor hair growth; Slow growing hair; Slow rate of hair growth; Slow speed of hair growth; Slow-growing hair","HPO_Name__c":"Slow-growing hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","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:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000621","HPO_Synonym__c":"Eyelid turned in","HPO_Name__c":"Entropion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","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:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","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:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Proximal mislocalization of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009623","HPO_Synonym__c":"Attachment of thumb close to wrist; Low implantation of the thumb; Low-set thumb; Proximally placed thumbs","HPO_Name__c":"Proximal placement of thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of tear production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000632","HPO_Synonym__c":"Abnormality of tear production","HPO_Name__c":"Lacrimation abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004275","HPO_Synonym__c":"Duplication of hand bones","HPO_Name__c":"Duplication of hand bones","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000830","HPO_Name__c":"Anterior hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased density/number and/or increased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000574","HPO_Synonym__c":"Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows","HPO_Name__c":"Thick eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000359","HPO_Synonym__c":"Abnormality of the inner ear; Inner ear abnormality","HPO_Name__c":"Abnormality of the inner ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1896","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Nephrology","Dermatology","Orthopedics","Otolaryngology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology","Dermatology","Craniofacial Anomalies","Ectodermal dysplasia"]},"synonyms":["ectodermal dysplasia with ectrodactyly and cleft lip or palate"," ectrodactyly ectodermal dysplasia cleft lip/palate"," ectrodactyly-cleft lip/palate syndrome"," ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate"," ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome"," ectrodactyly-ectodermal dysplasia-cleft syndrome"," ectrodactyly-ectodermal dysplasia-clefting (eec) syndrome"," ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome"," eec - ectodermal dysplasia with ectrodactyly and cleft lip or palate"," eec syndrome"," rudiger syndrome"," rudiger syndrome 1"," rudiger's syndrome"," walker-clodius syndrome"]}