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Infantile systemic hyalinosis
1 OMIM reference -
1 associated gene
8 connected diseases
29 signs/symptoms
Disease Type of connection
Juvenile hyaline fibromatosis
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Cobblestone lissencephaly without muscular or ocular involvement
X-linked Alport syndrome
X-linked diffuse leiomyomatosis - Alport syndrome
Familial porencephaly
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ANTXR2 P58335608041
Very frequent
- Autosomal recessive inheritance
- Camptodactyly of fingers
- Coarse face
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intestinal / colonic anomaly
- Irregular / in bands / reticular skin hyperpigmentation
- Lymphedema
- Malabsorption / chronic diarrhea / steatorrhea
- Muscle anomalies
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thick skin / pachydermia / orange skin
- Thickened / hypertrophic / fibromatous gingivae
- Thymic aplasia / hypoplasia
- Urticaria

Frequent
- Abnormal / polycystic ovaries
- Adrenal glands anomalies
- Chronic skin infection / ulcerations / ulcers / cancrum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Short neck

Occasional
- Short hand / brachydactyly
- Telangiectasiae of the skin
- Tooth shape anomaly