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1 OMIM reference -
2 associated genes
14 signs/symptoms
COMMON GENES: 2
COMMON SIGNS: 6
1 OMIM reference -
2 associated genes
10 signs/symptoms
Hypoplastic tibiae - postaxial polydactyly
Syndactyly type 4

LMBR1 LMBR1
SHH SHH


COMMON
GENES
LMBR1
SHH



Citations in the biomedical literature:


Hypoplastic tibiae - postaxial polydactyly
LMBR1 SHH
Syndactyly type 4



Hypoplastic tibiae - postaxial polydactyly
Syndactyly type 4

Synonym(s):
- Werner mesomelic syndrome

Synonym(s):
- Polysyndactyly, Haas type

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Complete claw hand / camptodactyly of all fingers
- Fingerlike / triphalangeal thumb
- Restricted joint mobility / joint stiffness / ankylosis
- Syndactyly of fingers / interdigital palm
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly


Hypoplastic tibiae - postaxial polydactyly
Syndactyly type 4

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Clinodactyly of fifth finger
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Postaxial polydactyly (hand)

Frequent
- Preaxial polydactyly (hand)

Occasional
- Short columella / depressed nasal tip
- Short stature / dwarfism / nanism
- Thumb hypoplasia / aplasia / absence


Very frequent
- Upper limb polydactyly / hexadactyly

Frequent
- Metacarpal anomalies / Archibald's sign
- Polydactyly of toes
- Syndactyly of toes