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Triphalangeal thumb - polysyndactyly syndrome

1 OMIM reference -
2 associated genes
11 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
4 associated genes
8 signs/symptoms

Triphalangeal thumb - polysyndactyly syndrome

Schizencephaly

LMBR1	(UniProt - OMIM)		COL4A1	(UniProt - OMIM)
SHH	(UniProt - OMIM)		EMX2	(UniProt - OMIM)
			SHH	(UniProt - OMIM)
			SIX3	(UniProt - OMIM)


COMMON GENES	SHH

Citations in the biomedical literature:

Triphalangeal thumb - polysyndactyly syndrome		Schizencephaly
	Synonym(s): - TPT-PS syndrome		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536563		External references: 1 OMIM reference - No MeSH references

Triphalangeal thumb - polysyndactyly syndrome		Schizencephaly
	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		Very frequent - Corpus callosum / septum pellucidum total / partial agenesis - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Porencephaly - Strabismus / squint Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus