Osteoporosis - macrocephaly - blindness - joint hyperlaxity

General Information (adopted from Orphanet):

Synonyms, Signs: Heide syndrome
Number of Symptoms 10
OrphanetNr: 2787
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0002645) Wormian bones Very frequent [Orphanet] 65 / 7739
4
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
5
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
6
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
7
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
8
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
9
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
10
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: