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2 OMIM references -
2 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
4 OMIM references -
4 associated genes
47 signs/symptoms
Infantile myofibromatosis
Adams-Oliver syndrome

NOTCH3 ARHGAP31
PDGFRB DOCK6
EOGT
RBPJ


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Infantile myofibromatosis
NOTCH3 PDGFRB
Adams-Oliver syndrome
ARHGAP31 DOCK6 EOGT RBPJ



Infantile myofibromatosis
Adams-Oliver syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- AOS
- Congenital scalp defects with distal limb anomalies
- Congenital scalp defects with distal limb reduction anomalies
- Limb, scalp and skull defects

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

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

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
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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


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


Infantile myofibromatosis
Adams-Oliver syndrome

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


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