Familial Scheuermann disease

General Information (adopted from Orphanet):

Synonyms, Signs: SPINAL OSTEOCHONDROSIS
SCHEUERMANN JUVENILE KYPHOSIS
Familial Scheuermann juvenile kyphosis
Familial spinal osteochondrosis
Number of Symptoms 6
OrphanetNr: 3135
OMIM Id: 181440
ICD-10: M42.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
2
(HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
3
(HPO:0010891) Morbus Scheuermann 1 / 7739
4
(OMIM) Scheuermann juvenile kyphosis 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Spinal osteochondrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur ...
Clinical Description OMIM Halal et al. (1978) reported 5 families in which multiple persons had Scheuermann juvenile kyphosis in a pattern consistent with autosomal dominant inheritance. One was known as a 'round back family.' In some, Scheuermann disease was discovered when ...
Population genetics OMIM Findlay et al. (1989) stated that Scheuermann disease has a population incidence of 0.4% to 8.3%, depending on whether the diagnosis was based, respectively, on clinical or radiographic criteria, since not all patients are symptomatic.