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1 OMIM reference -
2 associated genes
14 signs/symptoms
COMMON GENES: 1
9 OMIM references -
8 associated genes
No signs/symptoms info
Hypoplastic tibiae - postaxial polydactyly
Colobomatous microphthalmia

LMBR1 ABCB6
SHH GDF3
GDF6
SHH
SOX2
STRA6
TENM3
VSX2


COMMON
GENES
SHH



Citations in the biomedical literature:


Hypoplastic tibiae - postaxial polydactyly
LMBR1 SHH
Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SOX2 STRA6
TENM3 VSX2



Hypoplastic tibiae - postaxial polydactyly
Colobomatous microphthalmia

Synonym(s):
- Werner mesomelic syndrome

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
9 OMIM references -
No MeSH references

Hypoplastic tibiae - postaxial polydactyly

Very frequent
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Clinodactyly of fifth finger
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Postaxial polydactyly (hand)
- Syndactyly of fingers / interdigital palm
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Preaxial polydactyly (hand)

Occasional
- Complete claw hand / camptodactyly of all fingers
- Fingerlike / triphalangeal thumb
- Restricted joint mobility / joint stiffness / ankylosis
- Short columella / depressed nasal tip
- Short stature / dwarfism / nanism
- Thumb hypoplasia / aplasia / absence


Colobomatous microphthalmia

(no data available)