Robinow syndrome

Term ID

DOID:0060254

Synonyms

acral dysostosis with facial and genital abnormalities
fetal face syndrome
Robinow dwarfism

Definition

A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (3)

References

GARD:312
ICD10CM:Q87.19
MESH:C562492
NCI:C85048
OMIM:PS268310
ORDO:97360
SNOMEDCT_US_2023_03_01:76520005
UMLS_CUI:C0265205

Ontology

Human Disease ( DOID:0060254 )

Relationships

is a type of: autosomal genetic disease syndrome

autosomal genetic disease syndrome Show first 5 Terms
has subtype: autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome

autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal recessive Robinow syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations