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Adams-Oliver syndrome
4 OMIM references -
4 associated genes
47 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Acroosteolysis dominant type
2 OMIM references -
1 associated gene
84 signs/symptoms
Adams-Oliver syndrome
Acroosteolysis dominant type

ARHGAP31
(UniProt - OMIM)
 NOTCH2
(UniProt - OMIM)
DOCK6
(UniProt - OMIM)
EOGT
(UniProt - OMIM)
RBPJ
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RBPJ
(0.67)
NOTCH2


Citations in the biomedical literature:


Adams-Oliver syndrome
ARHGAP31 DOCK6 EOGT RBPJ
Acroosteolysis dominant type
NOTCH2



Adams-Oliver syndrome
Acroosteolysis dominant type

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):
- Acrodentoosteodysplasia
- Acroosteolysis with osteoporosis and changes in skull and mandible
- Arthro-dento-ostéodysplasie
- Arthrodentoosteodysplasia
- Cheney syndrome
- Hajdu-Cheney syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
1 MeSH reference: C538225
External references:
2 OMIM references -
3 MeSH references: C531695 / C535663 / D031845
COMMON
SIGNS 		- Autosomal dominant inheritance
- Cataract / lens opacification
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hydrocephaly
- Short hand / brachydactyly
- Terminal / third phalangeal bone of fingers hypoplasia

Adams-Oliver syndrome
Acroosteolysis dominant type

Very frequent
- Cutis marmorata / marbled skin / livedo
- 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
- Irregular length / shape of fingers
- Metacarpal anomalies / Archibald's sign
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary valve atresia / stenosis / narrowing
- Strabismus / squint
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- 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
- Autosomal recessive inheritance
- Cirrhosis
- Congenital hepatic fibrosis
- EEG anomalies
- Encephalocele / exencephaly
- Esophageal varices
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- 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
- Alveolysis / paraodontitis
- Distal phalangeal bones of toes hypoplasia / absence
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Facial dysmorphism
- Hypertelorism
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Poorly ossified skull / calvarium
- Short foot / brachydactyly of toes
- Short stature / dwarfism / nanism
- Skull / cranial anomalies
- Thick / bushy eyebrows

Frequent
- Abnormal fingernails
- Abnormal vertebral size / shape
- Anomalies of teeth and dentition
- Anteverted nares / nostrils
- Arnold-Chiari anomaly
- Articular / joint pain / arthralgia
- Basilary impression / invagination / cranio-spinal malformation / platybasia
- Bone pain
- Broad cheeks / cherub-like / cherubin face
- Cleft lip and palate
- Coarse face
- Dental malocclusion
- Dolichocephaly / scaphocephaly
- Downturned mouth
- Frontal sinus agenesis / anomaly
- Hearing loss / hypoacusia / deafness
- Hirsutism / hypertrichosis / Increased body hair
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic mandibula / partial absence of the mandibula
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microstomia / little mouth
- Mutiple fractures / bone fragility
- Prominent occiput / occipital bossing
- Scoliosis
- Short neck
- Telecanthus / canthal dystopy
- Thin / retracted lips
- Wormian bones

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Bowed diaphysis / diaphyses / long bones
- Broad nasal root
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coarse / thick hair
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Dry / squaly skin / exfoliation
- Facial pain / cephalalgia / migraine
- Flat cheek bones / malar hypoplasia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Intestinal / gut / bowel malrotation
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Low hair line-front
- Low set ears / posteriorly rotated ears
- Mitral valve atresia / stenosis / narrowing
- Myopia
- Patella dislocation
- Patent ductus arteriosus
- Pectus carinatum
- Peripheral neuropathy
- Polycystic kidneys
- Repeat respiratory infections
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly
- Synophris / synophrys
- Syringomelia
- Terminal broadening / clubbing of toes
- Thick skin / pachydermia / orange skin
- Umbilical hernia
- Ventricular septal defect / interventricular communication