ODCs

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Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 9

Pfeiffer syndrome type 2

1 associated gene
34 signs/symptoms

Cutis gyrata - acanthosis nigricans - craniosynostosis

Pfeiffer syndrome type 2

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Cutis gyrata - acanthosis nigricans - craniosynostosis		Pfeiffer syndrome type 2
	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 eye disease - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Choanal atresia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - High vaulted / narrow palate - Hypertelorism - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Cutis gyrata - acanthosis nigricans - craniosynostosis		Pfeiffer syndrome type 2
	Very frequent - Acanthosis nigricans - Anodontia / oligodontia / hypodontia - Anomalies of ear and hearing - Anomalies of skin, subcutaneous tissue and mucosae - 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 - Ptosis - 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 - 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 - Arnold-Chiari anomaly - Broad / bifid big toe - Broad / bifid thumb - Cloverleaf skull - High forehead - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - External auditory canal atresia / stenosis / agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short hand / brachydactyly - Stenosis of aqueduc of Sylvius - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Tracheomalacia / tracheobronchomalacia Occasional - Cranial hypertension - Early death / lethality - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Visual loss / blindness / amblyopia