ODCs

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Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 10

Antley-Bixler syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

Cutis gyrata - acanthosis nigricans - craniosynostosis

Antley-Bixler syndrome

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Cutis gyrata - acanthosis nigricans - craniosynostosis		Antley-Bixler 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537780


COMMON SIGNS	- Anteverted nares / nostrils - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Craniostenosis / craniosynostosis / sutural synostosis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat cheek bones / malar hypoplasia - Hypertelorism - Microstomia / little mouth - Proptosis / exophthalmos - Turricephaly / oxycephaly / acrocephaly

Cutis gyrata - acanthosis nigricans - craniosynostosis		Antley-Bixler syndrome
	Very frequent - Acanthosis nigricans - Anodontia / oligodontia / hypodontia - Anomalies of ear and hearing - Anomalies of skin, subcutaneous tissue and mucosae - Autosomal dominant inheritance - Depressed nasal bridge - Depressed premaxillary region / midface - Dolichocephaly / scaphocephaly - Face / facial anomalies - Long / large ear - Mid-facial hypoplasia / short / small midface - Palmoplantar hyperkeratosis / keratoderma - Pigmented naevi / naevus pigmentosus / lentigo - 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 - Visceral angiomatosis (excluding skin) Frequent - Bifid scrotum - High vaulted / narrow palate - Horizontal folds on scrotum Occasional - Anomalies of eyes and vision - Anus ectopia / anteposition / malposition - Chronic arterial hypertension - Helix thickened / sculpted - Hydrocephaly - Nails anomalies - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Autosomal recessive inheritance - Brachycephaly / flat occiput - Camptodactyly of fingers - Congenital cardiac anomaly / malformation / cardiopathy - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Frontal bossing / prominent forehead - Humeroradial fusion - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rib structure anomalies - Short / small nose Frequent - Structural anomalies of the kidney and the urinary tract Occasional - Flat supraorbital ridge - Long philtrum - Mutiple fractures / bone fragility - Strabismus / squint - Talipes-varus / metatarsal varus