| Individual ID |
00311889 |
| Associated disease |
RRS |
| Phenotype details |
height 90%; OFC SD>+4; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; no long eyelashes; prominent eyes; no blue sclerae; no epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; no long philtrum; triangular mouth; no thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; no bilobed tongue; dental anomalies; no short neck; no micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; no clinodactyly; no camptodactyly; broad thumb; no nail dysplasia; bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; pectus anomaly; no sacral dimple; cryptorchidism; no hypospadias; micropenis; renal anomalies; no inguinal hernia; no heart defects; no umbilical hernia; no seizures; no hearing loss; no obstructive sleep apnea; no absent anterior nasal spine; no increased bone density (skull); omphalocele; no hepatomegaly |
| Diagnosis/Initial |
Robinow syndrome |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
DRS2 |
| Age/Examination |
21y (21 years) |
| 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 |
2020-09-29 22:21:18 +02:00 (CEST) |
| Date last edited |
N/A |
