Robinow-like syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Saal-Greenstein syndrome
Number of Symptoms 11
OrphanetNr: 3105
OMIM Id:
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
3
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
4
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
5
 (HPO:0001131) Corneal dystrophy Very frequent [Orphanet] 56 / 7739
6
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
7
 (HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
8
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
9
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
10
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
11
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: