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Spondyloepiphyseal dysplasia, Reardon type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms	26
OrphanetNr:	163662
OMIM Id:	600561
ICD-10:	Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	1 family [Orphanet]
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	DB Freq
1	(HPO:0001308)	Tongue fasciculations	18 / 7739
2	(HPO:0011448)	Ankle clonus	31 / 7739
3	(HPO:0001348)	Brisk reflexes	15 / 7739
4	(HPO:0001269)	Hemiparesis	51 / 7739
5	(HPO:0002273)	Tetraparesis	15 / 7739
6	(HPO:0002938)	Lumbar hyperlordosis	73 / 7739
7	(HPO:0008489)	Spondylolisthesis at L5-S1	2 / 7739
8	(HPO:0005667)	Os odontoideum	1 / 7739
9	(HPO:0009130)	Hand muscle atrophy	11 / 7739
10	(HPO:0002750)	Delayed skeletal maturation	250 / 7739
11	(HPO:0003090)	Hypoplasia of the capital femoral epiphysis	15 / 7739
12	(HPO:0002655)	Spondyloepiphyseal dysplasia	21 / 7739
13	(HPO:0001388)	Joint laxity	117 / 7739
14	(HPO:0003414)	Atlantoaxial dislocation	5 / 7739
15	(HPO:0003304)	Spondylolysis	11 / 7739
16	(HPO:0004322)	Short stature	1232 / 7739
17	(HPO:0002878)	Respiratory failure	57 / 7739
18	([DEL]HPO:0004893)	progressive respiratory failure	2 / 7739
19	(HPO:0003690)	Limb muscle weakness	41 / 7739
20	(HPO:0001283)	Bulbar palsy	31 / 7739
21	(OMIM)	Irregular vertebral end plates	2 / 7739
22	(OMIM)	Os odontoideum and atlanto-axial instability	1 / 7739
23	(OMIM)	Clonus in legs	1 / 7739
24	(HPO:0000006)	Autosomal dominant inheritance	2518 / 7739
25	(OMIM)	Flat femoral head with subluxation and sloping acetabulum	1 / 7739
26	(OMIM)	Joint laxity, mild	4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Reardon et al. (1994) described a family with a 4-generation history of short stature (height less than 150 cM), which came to attention through the simultaneous presentation of sisters with neurologic sequelae of atlantoaxial subluxation. The first sister ... Reardon et al. (1994) described a family with a 4-generation history of short stature (height less than 150 cM), which came to attention through the simultaneous presentation of sisters with neurologic sequelae of atlantoaxial subluxation. The first sister presented at the age of 11 years, following a fall which was accompanied by loss of consciousness for 1 hour, after which her ability to move her limbs was severely impaired. Progressive breathing difficulty followed and eventually required ventilation. Initial neurologic examination 3 months after the insult showed asymmetrical quadriparesis with minimal movement. The small muscles of the hands were wasted. Reflexes were uniformly brisk and clonus was demonstrable in the lower limbs. There was bulbar palsy with some tongue fasciculations. She showed height less than the third centile and mild joint laxity. She had always been shorter than her peers. At the age of 5 years, a fall downstairs had led to a short period of unconsciousness, followed by an epileptic episode and a mild right hemiparesis that was always apparent thereafter. CT scan demonstrated C1-C2 dislocation. At the age of 11, MRI of the cervical spine showed atlantoaxial subluxation associated with os odontoideum. The femoral capital epiphyses were small. In the second sister, the first concern arose at age 3 years when she fell and struck her head, losing consciousness for 15 minutes. She became incontinent and craniovertebral instability and compression were diagnosed. At the age of 4 years, there was marked quadriparesis with spasticity of all 4 limbs. Both sisters showed delay in bone maturation on hand films. The father was 152 cM tall with striking lumbar lordosis and short, clubbed fingers. Neurologic status was normal, apart from brisk reflexes in the legs. As in the daughters, cervical spine radiographs showed an osodontoideum and gross atlantoaxial instability. The vertebral endplates were irregular, especially in the dorsal spine. Bilateral spondylolysis and minimal spondylolisthesis of L5 were seen. Pelvic x-rays showed flatness of the right femoral head with subluxation and a sloping acetabulum. The authors noted that the extensive radiologic abnormalities, involving predominantly vertebrae and femora, were distinct from known forms of autosomal dominant SED and the degree of cervical instability in both generations available for investigation was proportionately worse than that seen in other forms of SED. There was apparently 1 instance of male-to-male transmission; the mother stated that her son (the brother of the affected sisters) had 'the familial short stature,' but he was not examined by the authors.

Symptoms & Signs

	Field	Query
	Disease
	Symptom