ODCs

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Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Thanatophoric dysplasia type 2

2 OMIM references -
1 associated gene
36 signs/symptoms

Cutis gyrata - acanthosis nigricans - craniosynostosis

Thanatophoric dysplasia type 2

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


COMMON GENES	FGFR3

Citations in the biomedical literature:

Cutis gyrata - acanthosis nigricans - craniosynostosis		Thanatophoric dysplasia type 2
	Synonym(s): - Beare-Stevenson cutis gyrata syndrome		Synonym(s): - Cloverleaf skull - micromelic bone dysplasia - TD2 - Thanatophoric dwarfism - cloverleaf skull - Thanatophoric dwarfism type 2

	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: before age 5 Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Acanthosis nigricans - Autosomal dominant inheritance - Depressed nasal bridge - Hydrocephaly - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Cutis gyrata - acanthosis nigricans - craniosynostosis		Thanatophoric dysplasia type 2
	Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of ear and hearing - Anomalies of skin, subcutaneous tissue and mucosae - Choanal atresia - 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 - 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 - 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 - Hypertelorism - Microstomia / little mouth - Nails anomalies - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Cloverleaf skull - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Narrow rib cage / thorax - Platyspondyly - Rhizomelic micromelia - Short hand / brachydactyly - Short rib cage / thorax - Short stature / dwarfism / nanism - Stillbirth / neonatal death Frequent - Dilated cerebral ventricles without hydrocephaly - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Increased nuchal translucency - Kyphosis - Polyhydramnios - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Atrial septal defect / interauricular communication - Encephalocele / exencephaly - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Patent ductus arteriosus - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis