ODCs

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Hypoplastic tibiae - postaxial polydactyly

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Gorlin syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

Hypoplastic tibiae - postaxial polydactyly

Gorlin syndrome

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		Gorlin syndrome
	Synonym(s): - Werner mesomelic syndrome		Synonym(s): - Basal cell nevus syndrome - NBCCS - Nevoid basal cell carcinoma syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin 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: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal 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

Hypoplastic tibiae - postaxial polydactyly		Gorlin syndrome
	Very frequent - 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 - Dermoid sinus / dimple / pit (excluding sacral) - Intracranial / cerebral calcifications - Neoplasms / tumors - Pigmented naevi / naevus pigmentosus / lentigo Frequent - Abnormal vertebral size / shape - Anomalies of the neck - Broad nasal root - Scoliosis - Short hand / brachydactyly Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Brachycephaly / flat occiput - Cataract / lens opacification - Coloboma of iris - Epicanthic folds - Frontal bossing / prominent forehead - Glaucoma - Hydrocephaly - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Long hand / arachnodactyly - Multiple caries - Prognathism / prognathia - Strabismus / squint - Telecanthus / canthal dystopy - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae