ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
31 signs/symptoms

Langer mesomelic dysplasia

LÃ©ri-Weill dyschondrosteosis

SHOX

Citations in the biomedical literature:

Langer mesomelic dysplasia		LÃ©ri-Weill dyschondrosteosis
	Synonym(s): - Mesomelic dwarfism, Langer type		Synonym(s): - LÃ©ri-Weill syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - 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: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537267		External references: 1 OMIM reference - 1 MeSH reference: C537119


COMMON SIGNS	- Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Madelung's deformity - Mesomelic micromelia - Short stature / dwarfism / nanism - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Wrist / carpal anomalies

Langer mesomelic dysplasia		LÃ©ri-Weill dyschondrosteosis
	Very frequent - Bowed diaphysis / diaphyses / long bones - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - High vaulted / narrow palate - Rhizomelic micromelia - Ulnar deviation of fingers Occasional - Hypoplastic mandibula / partial absence of the mandibula		Very frequent - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Autosomal dominant inheritance - Broad nose / nasal bridge - Clinodactyly of fifth finger - Cone epiphyses / epiphysis - Depressed nasal bridge - Enlarged diaphysis / diaphyses - Exostoses - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Patella absent / abnormal (excluding luxation) - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Frequent - Brachycephaly / flat occiput - Elbow dislocation - Genu valgum