{"Name":"Alopecia - contractures - dwarfism - intellectual disability syndrome","DiseaseID__c":"GARD:0000605","id":605,"encodedName":"alopecia-contractures-dwarfism-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Alopecia - contractures - dwarfism - intellectual disability syndrome","Xref_IDs__c":"C0795895; C537051; MEDGEN:167081; MONDO:0008754; OMIM:203550; ORPHA:1005","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008754","Disease_Description__c":"A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.","GARD_Name__c":"Alopecia - contractures - dwarfism - intellectual disability syndrome","GARD_Synonym__c":"acd-intellectual disability syndrome; alopecia-contractures-dwarfism-intellectual disability syndrome","Curated_Disease_Description_Source__c":"MONDO:0008754","Curated_Disease_Description__c":"A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.","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:1005","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008754","ORPHANET_ID__c":"ORPHA:1005","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de alopecia-contracturas-talla baja significativa-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:1005","Spanish_Description__c":"Es una forma del síndrome de displasia ectodérmica caracterizada por talla baja de inicio prenatal, alopecia, ictiosis, fotofobia, ectrodactilia, crisis epilépticas, escoliosis, contracturas múltiples, fusiones de varios huesos (particularmente codos, carpianos, metacarpianos y espina dorsal), discapacidad intelectual, y dismorfia facial (microdolicocefalia, madarosis, orejas grandes y nariz larga). El síndrome ACD se superpone con el síndrome de ictiosis folicular-alopecia-fotofobia.","Spanish_Disease_Name__c":"síndrome de alopecia-contracturas-talla baja significativa-discapacidad intelectual","Spanish_GARD_Synonym__c":null,"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":"A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.","Curated_Disease_Description_Source__c":"MONDO:0008754","GARD_Synonym__c":"acd-intellectual disability syndrome; alopecia-contractures-dwarfism-intellectual disability syndrome","Name":"Alopecia - contractures - dwarfism - intellectual disability 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1005"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1005"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/203550","Source__c":"C0795895; MONDO:0008754; ORPHA:1005","Xref__c":"OMIM:203550"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795895","Source__c":"C0795895","Xref__c":"C0795895"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=167081","Source__c":"C0795895","Xref__c":"MEDGEN:167081"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537051","Source__c":"MONDO:0008754","Xref__c":"C537051"},{"URL__c":"https://www.orpha.net/en/disease/detail/1005","Source__c":"C0795895; MONDO:0008754","Xref__c":"ORPHA:1005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008754","Source__c":"GARD:0000605","Xref__c":"MONDO:0008754"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008855","HPO_Synonym__c":"Moderate growth delay in children","HPO_Name__c":"Moderate postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Very frequent (80-99%)","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:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005819","HPO_Synonym__c":"Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones","HPO_Name__c":"Short middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the upper and the lower arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009811","HPO_Synonym__c":"Abnormality of the elbow; Abnormality of the elbows","HPO_Name__c":"Abnormality of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Occasional (5-29%)","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:1005","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008388","HPO_Synonym__c":"Abnormality of the toenail; Abnormality of the toenails","HPO_Name__c":"Abnormal toenail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","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:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000448","HPO_Synonym__c":"Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose","HPO_Name__c":"Prominent nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004422","HPO_Name__c":"Biparietal narrowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tall head relative to width and length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000262","HPO_Synonym__c":"Tall shaped cranium; Tall shaped skull; Tower cranium shape; Tower skull shape; Turricephalus","HPO_Name__c":"Turricephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Very frequent (80-99%)","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:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011039","HPO_Synonym__c":"Abnormal helices; Abnormality of the helix; Helix abnormal","HPO_Name__c":"Abnormal helix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Very frequent (80-99%)","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:1005","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:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality related to a defect of vertebral separation during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003422","HPO_Synonym__c":"Abnormal spinal segmentation","HPO_Name__c":"Vertebral segmentation defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the antihelix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009738","HPO_Synonym__c":"Abnormal antehelix; Abnormal anthelix; Abnormal antihelix","HPO_Name__c":"Abnormal antihelix morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","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:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["acd-intellectual disability syndrome"," alopecia-contractures-dwarfism-intellectual disability syndrome"]}