Synonym(s): - Chondroectodermal dysplasia - Mesodermic dysplasia
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare respiratory disease - Rare skin disease - Rare surgical cardiac disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: D004613
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
EVC	P57679	604831
EVC2	Q86UK5	607261

- Abnormal fingernails
- 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
- Short stature / dwarfism / nanism
- Terminal / third phalangeal bone of fingers hypoplasia
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails
- Upper limb polydactyly / hexadactyly

- Anodontia / oligodontia / hypodontia
- 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
- Oral synechiae / abnormal frenulae
- 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

- 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