Synonym(s): (no synonyms)
Classification (Orphanet): - 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: C535655
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ABCC9	O60706	601439

- Autosomal dominant inheritance
- Blepharophimosis / short palpebral fissures
- Coarse face
- Flared / thick ala nasi
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Large hand
- Long / large / bulbous nose
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Protruding lips
- Puffy eyelids
- Thick lips
- Thickened / hypertrophic / fibromatous gingivae

- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- High arched eyebrows
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Micrognathia / retrognathia / micrognathism / retrognathism
- Sloping forehead
- Synophris / synophrys
- Thick skin / pachydermia / orange skin
- Thick / bushy eyebrows

- Seizures / epilepsy / absences / spasms / status epilepticus
- Tapered fingers