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Hypoplastic tibiae - postaxial polydactyly
1 OMIM reference -
2 associated genes
20 connected diseases
14 signs/symptoms
Disease Type of connection
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Radial hemimelia, bilateral
Radial hemimelia, unilateral
Syndactyly type 4
Triphalangeal thumb - polysyndactyly syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Adactyly of foot, bilateral
Adactyly of foot, unilateral
Colobomatous microphthalmia
Schizencephaly
Solitary median maxillary central incisor syndrome
Gorlin syndrome
Monosomy 9q22.3
Commissural facial cleft
Synonym(s):
- Werner mesomelic syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LMBR1 Q8WVP7605522
SHH Q15465600725
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