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1 OMIM reference -
1 associated gene
41 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Isolated brachycephaly

2 OMIM references -
3 associated genes
12 signs/symptoms

Achondroplasia

Isolated brachycephaly

FGFR3	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)
			TCF12	(UniProt - OMIM)
			TWIST1	(UniProt - OMIM)


COMMON GENES	FGFR3

Citations in the biomedical literature:

Achondroplasia		Isolated brachycephaly
	Synonym(s): (no synonyms)		Synonym(s): - Non-syndromic bicornal synostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D000130		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Mid-facial hypoplasia / short / small midface - Short hand / brachydactyly

Achondroplasia		Isolated brachycephaly
	Very frequent - Anomalies of the ribs - Anteverted nares / nostrils - Chronic / relapsing otitis - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - Genu varum - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Rhizomelic micromelia - Short stature / dwarfism / nanism Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal vertebral size / shape - Apnea / sleep apnea - Bowed diaphysis / diaphyses / long bones - Conductive deafness / hearing loss - Dilated cerebral ventricles without hydrocephaly - Elbow anomalies(excluding luxation) - Enlarged diaphysis / diaphyses - Generalized obesity - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Hypotonia - Intrauterine growth retardation - Kyphosis - Long rib cage / thorax - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Death in infancy - Elbow dislocation - Elocution disorders / dysarthria / dysphonia - Hydrocephaly - Rachidian / spine canal stenosis - Restricted joint mobility / joint stiffness / ankylosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia		Very frequent - Brachycephaly / flat occiput - Broad forehead Frequent - Cranial hypertension - Flat supraorbital ridge - Hearing loss / hypoacusia / deafness - Proptosis / exophthalmos Occasional - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Metacarpal anomalies / Archibald's sign