Synonym(s): - Pulmonic stenosis - brachytelephalangism - calcification of cartilages
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C536167
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
MGP	P08493	154870

- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Calcification of cartilages / intraarticular calcification
- Depressed nasal bridge
- Long face
- Mid-facial hypoplasia / short / small midface
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Terminal / third phalangeal bone of fingers hypoplasia
- Tracheal atresia / stenosis

- Abnormal cry / voice / phonation disorder / nasal speech
- Chronic / relapsing otitis
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Periarticular tissue anomaly / extraarticular calcifications
- Pulmonary hypertension
- Repeat respiratory infections
- Sloping forehead
- Thin / hypoplastic ala nasi
- Ventricular septal defect / interventricular communication

- Alopecia
- Loose skin / skin relaxation / excess skin / creases
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy