ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Hypoplastic tibiae - postaxial polydactyly

Commissural facial cleft

LMBR1	(UniProt - OMIM)		PTCH2	(UniProt - OMIM)
SHH	(UniProt - OMIM)		SPECC1L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHH	(0.52)	PTCH2

Citations in the biomedical literature:

Hypoplastic tibiae - postaxial polydactyly		Commissural facial cleft
	Synonym(s): - Werner mesomelic syndrome		Synonym(s): - Macrostomia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical 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: 1 OMIM reference - 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
Commissural facial cleft
(no data available)