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Acrodysostosis
2 OMIM references -
2 associated genes
36 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 4
Carney complex
2 OMIM references -
1 associated gene
55 signs/symptoms
Acrodysostosis
Carney complex

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

COMMON
GENES 		PRKAR1A


Citations in the biomedical literature:


Acrodysostosis
PDE4D PRKAR1A
Carney complex



Acrodysostosis
Carney complex

Synonym(s):
- Acrodysplasia
- Arkless-Graham syndrome
- Maroteaux-Malamut syndrome
Synonym(s):
- Carney syndrome
- Myxoma - spotty pigmentation - endocrine overactivity
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare eye disease
- Rare genetic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C538179
External references:
2 OMIM references -
1 MeSH reference: D056733
COMMON
SIGNS 		- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Pigmented naevi / naevus pigmentosus / lentigo
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Acrodysostosis
Carney complex

Very frequent
- Abnormal vertebral size / shape
- 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


Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Abnormal pigmentation of the oral mucosa / gingivae
- Acromegaly
- Adrenal neoplasm / tumor / carcinoma / cancer
- Cortico-adrenal hyperplasia / hypersecretion
- Cushingoid morphotype
- Endocrine tumor
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Heart / cardiac tumor
- Skin tumors / lumps / epidermal cysts
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thyroid neoplasm / tumor / carcinoma / cancer

Frequent
- Abnormal fat distribution / lipodystrophy
- Articular / joint pain / arthralgia
- Asthenia / fatigue / weakness
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Breast neoplasm / tumor / carcinoma / cancer
- Broad foot
- Chronic arterial hypertension
- Coarse face
- Fever / chilling
- Generalized obesity
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Hydrarthrosis / articular / joint effusion
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin-independent / type 2 diabetes
- Kyphosis
- Large hand
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteoarthritis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Psychic / behavioural troubles
- Round face
- Thin skin
- Transient cerebral ischemia / stroke
- Truncal obesity

Occasional
- Anaemia
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Mitral valve atresia / stenosis / narrowing
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Motor deficit / trouble
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Precocious puberty
- Striae
- Tall stature / gigantism / growth acceleration
- Weight loss / loss of appetite / break in weight curve / general health alteration