ODCs

Click node...

Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Proximal 16p11.2 microdeletion syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

Cutis gyrata - acanthosis nigricans - craniosynostosis

Proximal 16p11.2 microdeletion syndrome

FGFR2	(UniProt - OMIM)		SH2B1	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.77)	SH2B1

Citations in the biomedical literature:

Cutis gyrata - acanthosis nigricans - craniosynostosis		Proximal 16p11.2 microdeletion syndrome
	Synonym(s): - Beare-Stevenson cutis gyrata syndrome		Synonym(s): - Proximal del(16)(p11.2) - Proximal monosomy 16p11.2

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hypertelorism - Mid-facial hypoplasia / short / small midface

Cutis gyrata - acanthosis nigricans - craniosynostosis		Proximal 16p11.2 microdeletion syndrome
	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 - 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 - Helix thickened / sculpted - Hydrocephaly - Microstomia / little mouth - Nails anomalies - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Autism / autistic disoders - Broad forehead - EEG anomalies - Macrocephaly / macrocrania / megalocephaly / megacephaly - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Coloboma of the optic nerve - Diaphragmatic hernia / defect / agenesis - Dilated cerebral ventricles without hydrocephaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Generalized obesity - Hyperactivity / attention deficit - Hypotonia - Micrognathia / retrognathia / micrognathism / retrognathism - Myopia - Psychosis / schizophrenia / maniac disorder - Scoliosis - Strabismus / squint - Syringomelia - Upper limb polydactyly / hexadactyly - Vertebral segmentation anomaly / hemivertebrae