ODCs

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1 associated gene
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Tall stature - scoliosis - macrodactyly of the great toes

Acromesomelic dysplasia, Maroteaux type

NPR2

Citations in the biomedical literature:

Tall stature - scoliosis - macrodactyly of the great toes		Acromesomelic dysplasia, Maroteaux type
	Synonym(s): - Tall stature - scoliosis - macrodactyly of the halluces		Synonym(s): (no synonyms)

	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): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood 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: normal Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535661

Acromesomelic dysplasia, Maroteaux type
	Frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Depressed nasal bridge - Dolichocephaly / scaphocephaly - Frontal bossing / prominent forehead - Hyperextensible joints / articular hyperlaxity - Kyphosis - Lordosis - Mesomelic micromelia - Restricted joint mobility / joint stiffness / ankylosis - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Short hand / brachydactyly - Short stature / dwarfism / nanism
Tall stature - scoliosis - macrodactyly of the great toes
(no data available)