ODCs

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Acrodysostosis

2 OMIM references -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Megalencephaly-capillary malformation-polymicrogyria syndrome

1 OMIM reference -
1 associated gene
36 signs/symptoms

Acrodysostosis

Megalencephaly-capillary malformation-polymicrogyria syndrome

PDE4D	(UniProt - OMIM)		PIK3CA	(UniProt - OMIM)
PRKAR1A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDE4D	(0.63)	PIK3CA

Citations in the biomedical literature:

Acrodysostosis		Megalencephaly-capillary malformation-polymicrogyria syndrome
	Synonym(s): - Acrodysplasia - Arkless-Graham syndrome - Maroteaux-Malamut syndrome		Synonym(s): - MCAP - MCM - MCMTC - Macrocephaly - cutis marmorata telangiectatica congenita - Macrocephaly-capillary malformation syndrome - Megalencephaly - cutis marmorata telangiectatica congenita - Megalencephaly-capillary malformation syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic 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: unknown 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: any age Type of inheritance: sporadic

	External references: 2 OMIM references - 1 MeSH reference: C538179		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Depressed nasal bridge - Intellectual deficit / mental / psychomotor retardation / learning disability

Acrodysostosis		Megalencephaly-capillary malformation-polymicrogyria syndrome
	Very frequent - Abnormal vertebral size / shape - Advanced bone age - Broad nose / nasal bridge - Cone epiphyses / epiphysis - Flattened nose - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Mouth held open - Nails anomalies - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose Frequent - Anteverted nares / nostrils - Brachycephaly / flat occiput - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hearing loss / hypoacusia / deafness - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Mesomelic micromelia - Peripheral neuropathy - Prognathism / prognathia - Rachidian / spine canal stenosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Dental malocclusion - Epicanthic folds - Late puberty / hypogonadism / hypogenitalism - Pigmented naevi / naevus pigmentosus / lentigo		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Macrocephaly / macrocrania / megalocephaly / megacephaly - Macrostomia / big mouth - Polydactyly of toes - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telangiectasiae of the skin - Upper limb polydactyly / hexadactyly - Visceral angiomatosis (excluding skin) Frequent - Broad cheeks / cherub-like / cherubin face - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cutis marmorata / marbled skin / livedo - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - High forehead - Hydrocephaly - Hyperextensible joints / articular hyperlaxity - Hypotonia - Macules - Structural anomalies of the nervous system Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of mouth, lip and philtrum - Arnold-Chiari anomaly - Cardiac rhythm disorder / arrhythmia - Congenital cardiac anomaly / malformation / cardiopathy - Deepset eyes / enophthalmos - Neoplasms / tumors - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Transient cerebral ischemia / stroke