ODCs

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Acromegaloid facial appearance syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Hypertrichotic osteochondrodysplasia, Cantu type

1 OMIM reference -
1 associated gene
38 signs/symptoms

Acromegaloid facial appearance syndrome

Hypertrichotic osteochondrodysplasia, Cantu type

ABCC9

(UniProt - OMIM)

ABCC9

(UniProt - OMIM)


COMMON GENES	ABCC9

Citations in the biomedical literature:

Acromegaloid facial appearance syndrome		Hypertrichotic osteochondrodysplasia, Cantu type

	Classification (Orphanet): - 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 / 1 000 000 Average age onset: neonatal/infancy 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: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535655		External references: 1 OMIM reference - 1 MeSH reference: C535572


COMMON SIGNS	- Autosomal dominant inheritance - Coarse face - Intellectual deficit / mental / psychomotor retardation / learning disability - Thick lips - Thick / bushy eyebrows

Acromegaloid facial appearance syndrome		Hypertrichotic osteochondrodysplasia, Cantu type
	Very frequent - Blepharophimosis / short palpebral fissures - Flared / thick ala nasi - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Large hand - Long / large / bulbous nose - Macroglossia / tongue protrusion / proeminent / hypertrophic - Protruding lips - Puffy eyelids - Thickened / hypertrophic / fibromatous gingivae Frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - High arched eyebrows - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Sloping forehead - Synophris / synophrys - Thick skin / pachydermia / orange skin Occasional - Seizures / epilepsy / absences / spasms / status epilepticus - Tapered fingers		Very frequent - Cardiomegaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hirsutism / hypertrichosis / Increased body hair - Long philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Low hair line (back) - Low hair line-front - Macrostomia / big mouth - Metaphyseal anomaly Frequent - Abnormal sole / deep creases - Abnormal vertebral size / shape - Anteverted nares / nostrils - Broad nose / nasal bridge - Broad / bifid big toe - Delayed bone age - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epicanthic folds - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow rib cage / thorax - Narrow / sloping shoulders - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Patent ductus arteriosus - Platyspondyly - Prominent supraorbital ridge - Rib structure anomalies - Short big toe - Short neck - Terminal / third phalangeal bone of fingers hypoplasia - Umbilical hernia Occasional - Advanced bone age - Cardiac valvulopathy - Cardiomyopathy / hypertrophic / dilated - Syndactyly of fingers / interdigital palm