ODCs

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1 OMIM reference -
1 associated gene
26 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
5 signs/symptoms

Metatropic dysplasia

Autosomal dominant congenital benign spinal muscular atrophy

Citations in the biomedical literature:

Metatropic dysplasia		Autosomal dominant congenital benign spinal muscular atrophy
	Synonym(s): - Metatropic dwarfism		Synonym(s): - Autosomal dominant benign distal spinal muscular atrophy - Congenital benign spinal muscular atrophy with contractures - Congenital nonprogressive spinal muscular atrophy

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C537356		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Restricted joint mobility / joint stiffness / ankylosis

Metatropic dysplasia		Autosomal dominant congenital benign spinal muscular atrophy
	Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Anomalies of the ribs - Cortical anomaly / thick bone cortical layer - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - High forehead - Intervertebral disk anomaly - Kyphosis - Long rib cage / thorax - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rough trabeculation of bone - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Occasional - Camptodactyly of fingers - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Hydrocephaly - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears		Very frequent - Hypotonia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy