Synonym(s): - EDS VIIC - Ehlers-Danlos syndrome type 7C
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare systemic or rheumatologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
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 - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ADAMTS2	O95450	604539

- Abnormal scarring / cheloids / hypertrophic scars
- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal recessive inheritance
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Herniae
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Joint dislocation / subluxation
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Restricted joint mobility / joint stiffness / ankylosis
- Rippled skin
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin skin
- Umbilical hernia

- Depressed nasal bridge
- Epicanthic folds
- Hypertelorism
- Inguinal / inguinoscrotal / crural hernia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis