Phenotype #0000299015
| Individual ID |
00406540 |
| Associated disease |
RRS |
| Phenotype details |
short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; strabismus; upslanted palpebral; no downslanted palpebral; no ptosis; long eyelashes; midface retrusion; depressed nasal bridge; wide nasal bridge; short nose; abnormality of the nasal tip; anteverted nares; long philtrum; no short philtrum; triangular mouth; downturned corners of mouth; no thin upper lip vermilion; no gingival overgrowth; no hypoplasia of tongue; bifid tongue; micrognathia; retrognathia; no high, narrow palate; oral cleft; abnormality of the dentition; no melanocytic nevus; no microtia; no low-set ears; short neck; pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; no nail dysplasia; syndactyly; no camptodactyly; no single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; abnormal heart morphology; abnormality of the kidney; no hearing impairment; inguinal hernia; scoliosis; rib fusion; mesomelia; no hemivertebrae; no limited pronation/supination of forearm; no hip dislocation |
| Diagnosis/Initial |
Robinow syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
RRS1 |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-04-01 11:58:12 +02:00 (CEST) |
| Date last edited |
N/A |
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