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Triphalangeal thumb - polysyndactyly syndrome
1 OMIM reference -
2 associated genes
20 connected diseases
11 signs/symptoms
Disease Type of connection
Hypoplastic tibiae - postaxial polydactyly
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Radial hemimelia, bilateral
Radial hemimelia, unilateral
Syndactyly type 4
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):
- TPT-PS 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536563
Gene symbol UniProt reference OMIM reference
LMBR1 Q8WVP7605522
SHH Q15465600725
Very frequent
- Autosomal dominant inheritance
- Fingerlike / triphalangeal thumb
- Syndactyly of fingers / interdigital palm

Frequent
- Metacarpal anomalies / Archibald's sign
- Postaxial polydactyly (hand)
- Preaxial polydactyly (hand)
- Syndactyly of toes
- Thumb duplication / distal bifid thumb phalangeal bone

Occasional
- Broad / bifid thumb
- Postaxial polydactyly of toes / fifth supernumerary toe
- Preaxial polydactyly of toes / big toe duplication