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Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 15

Apert syndrome

1 OMIM reference -
1 associated gene
45 signs/symptoms

Cutis gyrata - acanthosis nigricans - craniosynostosis

Apert syndrome

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Cutis gyrata - acanthosis nigricans - craniosynostosis		Apert syndrome
	Synonym(s): - Beare-Stevenson cutis gyrata syndrome		Synonym(s): - ACS1 - Acrocephalosyndactyly type 1

	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 eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D000168


COMMON SIGNS	- Anus ectopia / anteposition / malposition - Autosomal dominant inheritance - Choanal atresia - Chronic arterial hypertension - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High vaulted / narrow palate - Hydrocephaly - Hypertelorism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Turricephaly / oxycephaly / acrocephaly

Cutis gyrata - acanthosis nigricans - craniosynostosis		Apert syndrome
	Very frequent - Acanthosis nigricans - Anodontia / oligodontia / hypodontia - Anomalies of ear and hearing - Anomalies of skin, subcutaneous tissue and mucosae - Dolichocephaly / scaphocephaly - 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 - Ptosis - Skull / cranial anomalies - Small / hypoplastic / adherent / absent ear lobe - Structural anomalies of the pancreas - Subcutaneous nodules / lipomas / tumefaction / swelling - Visceral angiomatosis (excluding skin) Frequent - Bifid scrotum - Craniostenosis / craniosynostosis / sutural synostosis - Horizontal folds on scrotum Occasional - Anomalies of eyes and vision - Anteverted nares / nostrils - Helix thickened / sculpted - Microstomia / little mouth - Nails anomalies - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Brachycephaly / flat occiput - Conductive deafness / hearing loss - Flat face - Frontal bossing / prominent forehead - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Syndactyly of fingers / interdigital palm - Syndactyly of toes Frequent - Beaked nose - Broad / bifid thumb - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Prognathism / prognathia - Strabismus / squint - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Thumb hypoplasia / aplasia / absence - Vertebral segmentation anomaly / hemivertebrae Occasional - Arnold-Chiari anomaly - Cloverleaf skull - Congenital cardiac anomaly / malformation / cardiopathy - Corneal ulceration / perforation - Dilated cerebral ventricles without hydrocephaly - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Ovary / ovarian teratoma / germinoma - Rhizomelic micromelia - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia