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Distal 16p11.2 microdeletion syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

Distal 16p11.2 microdeletion syndrome

Cutis gyrata - acanthosis nigricans - craniosynostosis

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


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

Citations in the biomedical literature:

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

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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		External references: 1 OMIM reference - No MeSH references

Cutis gyrata - acanthosis nigricans - craniosynostosis
	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
Distal 16p11.2 microdeletion syndrome
(no data available)