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Triphalangeal thumb - polysyndactyly syndrome

1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1

Monosomy 9q22.3

1 associated gene
24 signs/symptoms

Triphalangeal thumb - polysyndactyly syndrome

Monosomy 9q22.3

LMBR1	(UniProt - OMIM)		PTCH1	(UniProt - OMIM)
SHH	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHH	(0.59)	PTCH1

Citations in the biomedical literature:

Triphalangeal thumb - polysyndactyly syndrome		Monosomy 9q22.3
	Synonym(s): - TPT-PS syndrome		Synonym(s): - Microdeletion 9q22.3

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - 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: <1 / 1 000 000 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: no data available Type of inheritance: sporadic

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

Triphalangeal thumb - polysyndactyly syndrome		Monosomy 9q22.3
	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 - Epicanthic folds - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hyperactivity / attention deficit - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Pectus excavatum - Short neck - Strabismus / squint - Tall stature / gigantism / growth acceleration - Trigonocephaly - Umbilical hernia Frequent - Advanced bone age - Bifid / cleft ear lobe / ear lobe pits - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dilated cerebral ventricles without hydrocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Kyphosis - Seizures / epilepsy / absences / spasms / status epilepticus - Thick / wide ear lobe