Phenotype #0000308713
| Individual ID |
00417197 |
| Associated disease |
OFD |
| Diagnosis/Initial |
orofaciodigital syndrome |
| Diagnosis/Definite |
- |
| Phenotype details |
weight 17 kg (-0.45 SD), height 103 cm (-1.12 SD), OFC 50 cm (-0.62 SD); lobulated with nodules; hypodontia (missing lower central incisors), excessive caries; narrow and high-arched; accessory oral frenula; dolichocephaly, frontal bossing; upslanted palpebral fissures; broad nasal bridge, thick alae nasi; protruding, cupped, low-set ears; narrow mouth; median notching of lower lip; retrognathia, horizontal chin crease; bilateral postaxial polydactyly with six fingers on the right and seven fingers on the left (operated); broad, medially deviated halluces, bilateral postaxial polydactyly with six toes; bilateral partial skin syndactyly of the toes; type A brachydactyly of the hands and feet; broad hands, interdigital webbing, single flexion crease in several fingers, broad feet; normal nails; MRI brain ectatic supratentorial ventricular system; no epilepsy; timely acquisition of motor and social skills, delayed speech, normal intellectual performance; mild shortening of forearms, mildly short of tibiae; normal echocardiogram; normal eye examination and fundoscopy; normal abdominal ultrasound, normal pelvic ultrasound |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
05y01m (5 years, 1 month) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-09-13 22:13:49 +02:00 (CEST) |
| Date last edited |
N/A |
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