ODCs

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Ellis Van Creveld syndrome

1 OMIM reference -
2 associated genes
50 signs/symptoms

COMMON GENES: 2
COMMON SIGNS: 6

Acrofacial dysostosis, Weyers type

1 OMIM reference -
2 associated genes
19 signs/symptoms

Ellis Van Creveld syndrome

Acrofacial dysostosis, Weyers type

EVC	(UniProt - OMIM)		EVC	(UniProt - OMIM)
EVC2	(UniProt - OMIM)		EVC2	(UniProt - OMIM)


COMMON GENES	EVC EVC2

Citations in the biomedical literature:

Ellis Van Creveld syndrome		Acrofacial dysostosis, Weyers type
	Synonym(s): - Chondroectodermal dysplasia - Mesodermic dysplasia		Synonym(s): - Curry-Hall syndrome - Weyers acrodental dysostosis - Weyers acrofacial dysostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare respiratory disease - Rare skin disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D004613		External references: 1 OMIM reference - 1 MeSH reference: C536695


COMMON SIGNS	- Abnormal fingernails - Anodontia / oligodontia / hypodontia - Oral synechiae / abnormal frenulae - Short stature / dwarfism / nanism - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails

Ellis Van Creveld syndrome		Acrofacial dysostosis, Weyers type
	Very frequent - Anomalies of teeth and dentition - Anomalies of tongue, gingiva and oral mucosa - Atrial septal defect / interauricular communication - Atrioventricular canal - Autosomal recessive inheritance - Cardiac valvulopathy - Congenital cardiac anomaly / malformation / cardiopathy - Failure to thrive / difficulties for feeding in infancy / growth delay - Genu valgum - Hair and scalp anomalies - Nails anomalies - Narrow rib cage / thorax - Polydactyly of toes - Rhizomelic micromelia - Short rib cage / thorax - Terminal / third phalangeal bone of fingers hypoplasia - Upper limb polydactyly / hexadactyly Frequent - Bladder and ureter anomalies - Complete / partial microdontia - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Hypospadias / epispadias / bent penis - Intrauterine growth retardation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Renal / kidney anomalies - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ventricular septal defect / interventricular communication - Wrist / carpal anomalies Occasional - Acute leukemia - Agenesis / hypoplasia / aplasia of kidneys - Anomalies of bones / skeletal anomalies - Bone marrow anomalies - Carpal bones fusion / synostosis - Cubitus valgus - Delayed bone age - Delayed dentition / eruption of teeth / lack of eruption of teeth - Emphysema - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Stillbirth / neonatal death - Thin / retracted lips - Uterine / uterus / Fallopian tubes anomalies		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal toenails - Autosomal dominant inheritance - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Postaxial polydactyly (hand) - Premature eruption of teeth / natal teeth - Tooth shape anomaly Frequent - Antihelix anomaly - Clinodactyly of fifth finger - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Facial cleft - Small hand / acromicria