Phenotype #0000237134
| Individual ID |
00311887 |
| Associated disease |
RRS |
| Phenotype details |
height <3%; OFC SD>+2; macrocephaly; frontal bossing; high forehead; midface hypoplasia; hypertelorism; no upslanting palpebral fissures; long eyelashes; prominent eyes; blue sclerae; epicanthal folds; anteverted nares; wide, low nasal bridge; short nose; long philtrum; triangular mouth; thin upper lip; gingival hyperplasia; no absent uvula; no cleft soft palate; bilobed tongue; dental anomalies; no short neck; micrognathia; abnormal ear shape and position; mesomelia; brachydactyly; clinodactyly; broad thumb; no nail dysplasia; no bifid first and/or second phalanges; hypoplastic phalanges; no fetal finger and/or toe pads; broad first toe; no scoliosis and/or kyphosis; no pectus anomaly; cryptorchidism; micropenis; no renal anomalies; no inguinal hernia; no heart defects; umbilical hernia; no seizures; hearing loss; no absent anterior nasal spine; no omphalocele; no hepatomegaly |
| Diagnosis/Initial |
Robinow syndrome |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
DRS2 |
| Age/Examination |
28m |
| 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 |
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