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Adams-Oliver syndrome

4 OMIM references -
4 associated genes
34 connected diseases
47 signs/symptoms

Disease	Type of connection
Reducing body myopathy
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Spinocerebellar ataxia type 1
Atypical Rett syndrome
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive hyper-IgE syndrome
Burkitt lymphoma
Combined immunodeficiency due to DOCK8 deficiency
Intellectual deficit, X-linked - psychosis - macroorchidism
Precursor T-cell acute lymphoblastic leukemia
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Acroosteolysis dominant type
Alagille syndrome due to a NOTCH2 point mutation
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Coffin-Siris syndrome
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Familial rhabdoid tumor
Intellectual deficit, X-linked, Siderius type
Medulloblastoma with extensive nodularity
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
CADASIL
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

Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		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		External references: 4 OMIM references - 1 MeSH reference: C538225

Gene symbol	UniProt reference	OMIM reference
ARHGAP31	Q2M1Z3	610911
DOCK6	Q96HP0	614194
EOGT	Q5NDL2	614789
RBPJ	Q06330	147183

Very frequent

- Autosomal dominant inheritance
- 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
- 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