Phenotype #0000299007
| Individual ID |
00313952 |
| Associated disease |
? |
| Diagnosis/Initial |
Robinow syndrome |
| Diagnosis/Definite |
RRS1 |
| Phenotype details |
short stature; prominent forehead; hypertelorism; proptosis; long palpebral fissure; no epicanthus; no strabismus; no upslanted palpebral; no downslanted palpebral; 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; no triangular mouth; no downturned corners of mouth; no thin upper lip vermilion; gingival overgrowth; no hypoplasia of tongue; no bifid tongue; no micrognathia; retrognathia; high, narrow palate; oral cleft; abnormality of the dentition; tooth agenesis; no melanocytic nevus; no microtia; low-set ears; short neck; no pectus excavatum; broad thumb; short palm; brachydactyly; clinodactyly; nail dysplasia; syndactyly; no camptodactyly; single transverse palmar crease; broad hallux; micropenis; no hypospadias; cryptorchidism; no sacral dimple; no abnormal heart morphology; no abnormality of the kidney; no hearing impairment; inguinal hernia; scoliosis; rib fusion; mesomelia; limited pronation/supination of forearm; hemivertebrae |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Juliana Mazzeu |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-04-01 11:55:01 +02:00 (CEST) |
| Date last edited |
N/A |
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