ODCs

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Hypoplastic tibiae - postaxial polydactyly

1 OMIM reference -
2 associated genes
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Solitary median maxillary central incisor syndrome

1 OMIM reference -
1 associated gene
37 signs/symptoms

Hypoplastic tibiae - postaxial polydactyly

Solitary median maxillary central incisor syndrome

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


COMMON GENES	SHH

Citations in the biomedical literature:

Hypoplastic tibiae - postaxial polydactyly		Solitary median maxillary central incisor syndrome
	Synonym(s): - Werner mesomelic syndrome		Synonym(s): - SMMCI - Single upper central incisor

	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 - Rare odontologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the digestive system -

	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: unknown Average age onset: childhood Average age of death: - Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537342


COMMON SIGNS	- Autosomal dominant inheritance - Short stature / dwarfism / nanism

Hypoplastic tibiae - postaxial polydactyly		Solitary median maxillary central incisor 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 - Thumb hypoplasia / aplasia / absence		Very frequent - Choanal atresia - Nasal / sinus obstruction / apertura pyriformis hypoplasia / stenosis - Solitary median incisor Frequent - Hypotelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Narrow nasal bridge - Prematurity - Short philtrum - Tented upper lip Occasional - Agenesis / hypoplasia / aplasia of kidneys - Ambiguous genitalia - Anteverted nares / nostrils - Asthma / bronchospasm - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cleft lip and palate - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Cyclopia - Duodenal atresia / stenosis / megaduodenum - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypothyroidy - Insterstitial / subtelomeric microdeletion / deletion - Maternal diabetes - Micropenis / small penis / agenesis - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short / small nose - Strabismus / squint - Tetralogy of Fallot / trilogy of Fallot - Vertebral segmentation anomaly / hemivertebrae