ODCs

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1 OMIM reference -
1 associated gene
41 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 15

Hypochondroplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

Achondroplasia

Hypochondroplasia

FGFR3

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	FGFR3

Citations in the biomedical literature:

Achondroplasia		Hypochondroplasia

	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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: elderly Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D000130		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal vertebral size / shape - Apnea / sleep apnea - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Elbow anomalies(excluding luxation) - Genu varum - Hyperextensible joints / articular hyperlaxity - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rachidian / spine canal stenosis - Short hand / brachydactyly - Short stature / dwarfism / nanism

Achondroplasia		Hypochondroplasia
	Very frequent - Anomalies of the ribs - Anteverted nares / nostrils - Chronic / relapsing otitis - Depressed nasal bridge - Frontal bossing / prominent forehead - Rhizomelic micromelia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Conductive deafness / hearing loss - Dilated cerebral ventricles without hydrocephaly - Enlarged diaphysis / diaphyses - Generalized obesity - Hyperhidrosis / increased sweating - Hypotonia - Intrauterine growth retardation - Kyphosis - Long rib cage / thorax - Mid-facial hypoplasia / short / small midface - Narrow rib cage / thorax Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Death in infancy - Elbow dislocation - Elocution disorders / dysarthria / dysphonia - Hydrocephaly - Restricted joint mobility / joint stiffness / ankylosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia		Very frequent - Short foot / brachydactyly of toes - Short limbs / micromelia / brachymelia Frequent - Femur anomaly / absence / agenesis / hypoplasia / bifurcation Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Osteoarthritis - Scoliosis