ODCs

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1 OMIM reference -
1 associated gene
21 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
7 signs/symptoms

Hypochondroplasia

Severe achondroplasia - developmental delay - acanthosis nigricans

Citations in the biomedical literature:

Hypochondroplasia		Severe achondroplasia - developmental delay - acanthosis nigricans
	Synonym(s): (no synonyms)		Synonym(s): - SADDAN

	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 - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Intellectual deficit / mental / psychomotor retardation / learning disability

Hypochondroplasia		Severe achondroplasia - developmental delay - acanthosis nigricans
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Elbow anomalies(excluding luxation) - Genu varum - Hyperextensible joints / articular hyperlaxity - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Apnea / sleep apnea - Bowed diaphysis / diaphyses / long bones - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Rachidian / spine canal stenosis - Scoliosis		Very frequent - Anomalies of bones / skeletal anomalies - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Clavicle absent / abnormal - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly