Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Name: |
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
|
Description: |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose.
|
ORPHAcode: |
589435
|
Synonyms: |
SMD-corneal dystrophy syndrome
|
XREF(s): | |
Analyte(s): | |
Created: |
20 Aug 2021 - 01:14
|
Changed: |
22 Jun 2023 - 16:14
|