Synonym(s): (no synonyms)
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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 dominant		External references: 1 OMIM reference - See 1 MeSH reference: C535572
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ABCC9	O60706	601439

- Cardiomegaly
- Coarse face
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hirsutism / hypertrichosis / Increased body hair
- Long philtrum
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low hair line (back)
- Low hair line-front
- Macrostomia / big mouth
- Metaphyseal anomaly
- Thick lips
- Thick / bushy eyebrows

- Abnormal sole / deep creases
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Broad nose / nasal bridge
- Broad / bifid big toe
- Delayed bone age
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epicanthic folds
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Narrow rib cage / thorax
- Narrow / sloping shoulders
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Patent ductus arteriosus
- Platyspondyly
- Prominent supraorbital ridge
- Rib structure anomalies
- Short big toe
- Short neck
- Terminal / third phalangeal bone of fingers hypoplasia
- Umbilical hernia

- Advanced bone age
- Autosomal dominant inheritance
- Cardiac valvulopathy
- Cardiomyopathy / hypertrophic / dilated
- Syndactyly of fingers / interdigital palm