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Cutis gyrata - acanthosis nigricans - craniosynostosis
1 OMIM reference -
2 associated genes
66 connected diseases
42 signs/symptoms
Disease Type of connection
Lacrimo-auriculo-dento-digital syndrome
Saethre-Chotzen syndrome
Achondroplasia
Antley-Bixler syndrome
Apert syndrome
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon disease
Crouzon syndrome - acanthosis nigricans
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Giant cell glioblastoma
Gliosarcoma
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Jackson-Weiss syndrome
Muenke syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Multiple synostoses syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autosomal dominant hyper-IgE syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Oculootodental syndrome
Otodental syndrome
Autosomal dominant hypophosphatemic rickets
Hypercalcemic tumoral calcinosis
Aplasia of lacrimal and salivary glands
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Autosomal agammaglobulinemia
SHORT syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Acute promyelocytic leukemia
Isolated NADH-CoQ reductase deficiency
Juvenile myelomonocytic leukemia
Laron syndrome with immunodeficiency
Monomelic amyotrophy
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Pycnodysostosis
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
Aldosterone-producing adenoma with seizures and neurological abnormalities
Sinoatrial node dysfunction and deafness
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
- Beare-Stevenson cutis gyrata syndrome
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGFR2 P21802176943
FGFR3 P22607134934
Very frequent
- Acanthosis nigricans
- Anodontia / oligodontia / hypodontia
- Anomalies of ear and hearing
- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal dominant inheritance
- Choanal atresia
- Depressed nasal bridge
- Depressed premaxillary region / midface
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Face / facial anomalies
- Flat cheek bones / malar hypoplasia
- Long / large ear
- Mid-facial hypoplasia / short / small midface
- Palmoplantar hyperkeratosis / keratoderma
- Pigmented naevi / naevus pigmentosus / lentigo
- Proptosis / exophthalmos
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skull / cranial anomalies
- Small / hypoplastic / adherent / absent ear lobe
- Structural anomalies of the pancreas
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Turricephaly / oxycephaly / acrocephaly
- Visceral angiomatosis (excluding skin)

Frequent
- Bifid scrotum
- Craniostenosis / craniosynostosis / sutural synostosis
- High vaulted / narrow palate
- Horizontal folds on scrotum

Occasional
- Anomalies of eyes and vision
- Anteverted nares / nostrils
- Anus ectopia / anteposition / malposition
- Chronic arterial hypertension
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Helix thickened / sculpted
- Hydrocephaly
- Hypertelorism
- Microstomia / little mouth
- Nails anomalies
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes