ODCs

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Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

Muenke syndrome

1 OMIM reference -
1 associated gene
18 signs/symptoms

Cutis gyrata - acanthosis nigricans - craniosynostosis

Muenke syndrome

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


COMMON GENES	FGFR3

Citations in the biomedical literature:

Cutis gyrata - acanthosis nigricans - craniosynostosis		Muenke syndrome
	Synonym(s): - Beare-Stevenson cutis gyrata syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - 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: unknown 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 - 1 MeSH reference: C537369


COMMON SIGNS	- Autosomal dominant inheritance - High vaulted / narrow palate - Hydrocephaly - Hypertelorism - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Ptosis

Cutis gyrata - acanthosis nigricans - craniosynostosis		Muenke syndrome
	Very frequent - Acanthosis nigricans - Anodontia / oligodontia / hypodontia - Anomalies of ear and hearing - Anomalies of skin, subcutaneous tissue and mucosae - 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 - 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 - 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 - Microstomia / little mouth - Nails anomalies - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes		Frequent - Brachycephaly / flat occiput - Carpal bones fusion / synostosis - Cone epiphyses / epiphysis - Cranial hypertension - Plagiocephaly - Sensorineural deafness / hearing loss - Short foot / brachydactyly of toes - Short hand / brachydactyly - Tarsal anomaly / fusion / synostosis Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly