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Hypoplastic tibiae - postaxial polydactyly

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Monosomy 9q22.3

1 associated gene
24 signs/symptoms

Hypoplastic tibiae - postaxial polydactyly

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:

Hypoplastic tibiae - postaxial polydactyly		Monosomy 9q22.3
	Synonym(s): - Werner mesomelic 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: 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: no data available Type of inheritance: sporadic

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

Hypoplastic tibiae - postaxial polydactyly		Monosomy 9q22.3
	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		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