AMME syndrome
A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis.
The AMME complex is an X-linked contiguous gene deletion syndrome with features of Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis in affected males
It has been described in two families.
The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.
Synonyms
- AMME complex
- AMME syndrome
- ATS-MR
X linked recessive rare disorder.
How common is AMME syndrome?
<1 in 1000000
What are the symptoms of AMME syndrome ?
Very Frequent Symptoms
- Abnormality of the hair
- Anteverted nares
- Depressed nasal bridge
- Downslanted palpebral fissures
- Glomerulopathy
- Intellectual disability, severe
- Malar flattening
- Microscopic hematuria
- Proteinuria
Frequent Symptoms
- Elliptocytosis
- Hearing impairment
- Hypotonia
- Renal insufficiency
- Tapered finger
- Thick vermilion border
- Thin vermilion border
Occasional Symptoms
- Abnormal aortic valve morphology
- Abnormality of the metaphysis
- Increased number of teeth
- Myopia
- Patent ductus arteriosus
- Strabismus
