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Adams-Oliver syndrome

4 OMIM references -
4 associated genes
47 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Infantile myofibromatosis

2 OMIM references -
2 associated genes
31 signs/symptoms

Adams-Oliver syndrome

Infantile myofibromatosis

ARHGAP31	(UniProt - OMIM)		NOTCH3	(UniProt - OMIM)
DOCK6	(UniProt - OMIM)		PDGFRB	(UniProt - OMIM)
EOGT	(UniProt - OMIM)
RBPJ	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RBPJ	(0.52)	NOTCH3

Citations in the biomedical literature:

Adams-Oliver syndrome		Infantile myofibromatosis
	Synonym(s): - AOS - Congenital scalp defects with distal limb anomalies - Congenital scalp defects with distal limb reduction anomalies - Limb, scalp and skull defects		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 4 OMIM references - 1 MeSH reference: C538225		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Autosomal recessive inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy

Adams-Oliver syndrome		Infantile myofibromatosis
	Very frequent - Cutis marmorata / marbled skin / livedo - Failure to thrive / difficulties for feeding in infancy / growth delay - Foot absent / apodia / adactyly / acheiropodia - Global upper and lower limbs anomalies - Hand agenesis / absence - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lower limb segmental anomalies - Scalp / skull defect - Skin hypoplasia / aplasia / atrophy - Upper limb segmental anomalies Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cataract / lens opacification - Hydrocephaly - Irregular length / shape of fingers - Metacarpal anomalies / Archibald's sign - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Pulmonary valve atresia / stenosis / narrowing - Short hand / brachydactyly - Strabismus / squint - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Terminal / third phalangeal bone of fingers hypoplasia - Tetralogy of Fallot / trilogy of Fallot - Trident hand / split hand / abnormal median ray Occasional - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Alopecia - Ascitis - Cirrhosis - Congenital hepatic fibrosis - EEG anomalies - Encephalocele / exencephaly - Esophageal varices - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Leukopenia / hypoleukocytosis - Porencephaly - Portal hypertension - Prematurity - Pulmonary hypertension - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia - Venous stenosis		Very frequent - Bone cyst - Bone / osseous neoplasm / tumor / carcinoma / cancer - Fibromatosis / bone fibroma - Metaphyseal anomaly - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Anomalies of chest / thorax / trunk - Face / facial anomalies - Intestinal / colonic anomaly - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Periarticular tissue anomaly / extraarticular calcifications - Skull / cranial anomalies - Thickened / hypertrophic / fibromatous gingivae Occasional - Anomalies of eyes and vision - Anomalies of spine, vertebrae and pelvis - Benign tumor of the brain / nervous system - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Hypercalcemia - Intestinal obstruction / ileus - Irregular / in bands / reticular skin hyperpigmentation - Osteolysis / osteoclasia / bone destruction / erosions - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis - Sacro-coccyx / sacrum anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis