ODCs

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Acrodysostosis

2 OMIM references -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

Acrodysostosis

Anophthalmia/microphthalmia - esophageal atresia

PDE4D	(UniProt - OMIM)		SOX2	(UniProt - OMIM)
PRKAR1A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PRKAR1A	(0.63)	SOX2

Citations in the biomedical literature:

Acrodysostosis		Anophthalmia/microphthalmia - esophageal atresia
	Synonym(s): - Acrodysplasia - Arkless-Graham syndrome - Maroteaux-Malamut syndrome		Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - 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: 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: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Abnormal vertebral size / shape - Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Undescended / ectopic testes / cryptorchidia / unfixed testes

Acrodysostosis		Anophthalmia/microphthalmia - esophageal atresia
	Very frequent - Advanced bone age - Broad nose / nasal bridge - Cone epiphyses / epiphysis - Depressed nasal bridge - 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 Occasional - Dental malocclusion - Epicanthic folds - Late puberty / hypogonadism / hypogenitalism - Pigmented naevi / naevus pigmentosus / lentigo		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Corpus callosum / septum pellucidum total / partial agenesis - External ear anomalies - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Failure to thrive / difficulties for feeding in infancy / growth delay - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication