ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 31 |
| OrphanetNr: | |
| OMIM Id: |
600906
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance Sporadic [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
|
|
(HPO:0006358) | Shovel-shaped maxillary central incisors | 3 / 7739 | ||||
|
|
(HPO:0000194) | Open mouth | 70 / 7739 | ||||
|
|
(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
|
|
(HPO:0000637) | Long palpebral fissure | 21 / 7739 | ||||
|
|
(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
|
|
(HPO:0000678) | Dental crowding | 65 / 7739 | ||||
|
|
(HPO:0000523) | Subcapsular cataract | 12 / 7739 | ||||
|
|
(HPO:0000598) | Abnormality of the ear | 98 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0002315) | Headache | 175 / 7739 | ||||
|
|
(HPO:0006097) | 3-4 finger syndactyly | 7 / 7739 | ||||
|
|
(HPO:0004691) | 2-3 toe syndactyly | 50 / 7739 | ||||
|
|
(HPO:0000958) | Dry skin | 152 / 7739 | ||||
|
|
(HPO:0007385) | Aplasia cutis congenita of scalp | 10 / 7739 | ||||
|
|
(HPO:0000968) | Ectodermal dysplasia | 46 / 7739 | ||||
|
|
(HPO:0000966) | Hypohidrosis | 41 / 7739 | ||||
|
|
(HPO:0008401) | Onychogryposis of toenails | 4 / 7739 | ||||
|
|
(OMIM) | Normal height, weight, and head circumference. | 1 / 7739 | ||||
|
|
(OMIM) | Short hair. Abundant stiff hair. Sparse eyebrows. | 1 / 7739 | ||||
|
|
(OMIM) | Severe onychogryposis, esp. the great toes. | 1 / 7739 | ||||
|
|
(OMIM) | Constantly open mouth. | 1 / 7739 | ||||
|
|
(OMIM) | Large palpebral fissures. | 1 / 7739 | ||||
|
|
(OMIM) | Abnormally modeled ears. | 1 / 7739 | ||||
|
|
(HPO:0002410) | Aqueductal stenosis | 19 / 7739 | ||||
|
|
(OMIM) | Ectodermal dysplasia. Mild hypohidrosis. Dry skin. | 1 / 7739 | ||||
|
|
(HPO:0003745) | Sporadic | 131 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
|
|
(OMIM) | Third and fourth finger syndactyly. Second and third toe syndactyly. | 1 / 7739 | ||||
|
|
(OMIM) | Peculiar face. | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|