Synonym(s): - Hyperostosis generalisata with striations - Robinow-Unger syndrome
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: x-linked dominant		External references: 1 OMIM reference - See 1 MeSH reference: C536053
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
AMER1	Q5JTC6	300647

- Autosomal dominant inheritance
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Metaphyseal anomaly
- Osteosclerosis / osteopetrosis / bone condensation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rough trabeculation of bone

- Broad nasal root
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Flat face
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Scoliosis

- Asymmetric rib cage / thorax
- Brachycephaly / flat occiput
- Cataract / lens opacification
- Enlargment of jaw / large jaw
- Epicanthic folds
- Facial palsy
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Lordosis
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Spina bifida occulta
- Stillbirth / neonatal death