Spondyloepimetaphyseal dysplasia, Bieganski type
General Information (adopted from Orphanet):
Synonyms, Signs: |
SEMD, X-LINKED, WITH MENTAL DETERIORATION |
Number of Symptoms | 52 |
OrphanetNr: | 168448 |
OMIM Id: |
300232
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ICD-10: |
Q77.7 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | 3 cases [Orphanet] |
Inheritance: |
X-linked recessive inheritance [Omim] |
Age of onset: |
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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:
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(HPO:0002645) | Wormian bones | 65 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(HPO:0000455) | Broad nasal tip | 67 / 7739 | ||||
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(HPO:0000280) | Coarse facial features | 189 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000574) | Thick eyebrow | 96 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0000294) | Low anterior hairline | 52 / 7739 | ||||
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(HPO:0000543) | Optic disc pallor | 67 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0003071) | Flattened epiphysis | 14 / 7739 | ||||
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(HPO:0000907) | Anterior rib cupping | 12 / 7739 | ||||
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(HPO:0003016) | Metaphyseal widening | 41 / 7739 | ||||
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(HPO:0006423) | Peg-like central prominence of distal tibial metaphyses | 1 / 7739 | ||||
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(HPO:0002869) | Flared iliac wings | 20 / 7739 | ||||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0001169) | Broad palm | 43 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
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(HPO:0010585) | Small epiphyses | 16 / 7739 | ||||
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(HPO:0002942) | Thoracic kyphosis | 14 / 7739 | ||||
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(HPO:0002651) | Spondyloepimetaphyseal dysplasia | 19 / 7739 | ||||
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(HPO:0100864) | Short femoral neck | 36 / 7739 | ||||
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(HPO:0000883) | Thin ribs | 31 / 7739 | ||||
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(HPO:0001769) | Broad foot | 31 / 7739 | ||||
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(HPO:0000884) | Prominent sternum | 11 / 7739 | ||||
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(HPO:0003311) | Hypoplasia of the odontoid process | 34 / 7739 | ||||
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(HPO:0008789) | Cone-shaped capital femoral epiphysis | 2 / 7739 | ||||
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(HPO:0003021) | Metaphyseal cupping | 16 / 7739 | ||||
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(HPO:0009381) | Short finger | 45 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0006028) | Metaphyseal cupping of metacarpals | 4 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0012704) | Widened subarachnoid space | 3 / 7739 | ||||
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(OMIM) | Short, hypoplastic femoral necks | 1 / 7739 | ||||
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(OMIM) | Large, broad hands | 1 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 | ||||
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(HPO:0012448) | Delayed myelination | 51 / 7739 | ||||
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(OMIM) | Inferior rib flaring | 1 / 7739 | ||||
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(OMIM) | Cone-shaped capital femoral epiphyses | 1 / 7739 | ||||
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(OMIM) | Small flattened epiphyses (distal femora and proximal tibiae) | 3 / 7739 | ||||
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(OMIM) | Widened subarachnoid spaces | 1 / 7739 | ||||
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(OMIM) | Large, broad feet | 1 / 7739 | ||||
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(HPO:0002188) | Delayed CNS myelination | 16 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(HPO:0002079) | Hypoplasia of the corpus callosum | 161 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Bieganski et al. (1999) described a distinct form of spondyloepimetaphyseal dysplasia in 3 boys related through their mothers, in a pattern clearly consistent with X-linked recessive inheritance. The main clinical features were short stature, abnormal face, skeletal deformities, ... |