Spondylo-megaepiphyseal-metaphyseal dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SMMD |
| Number of Symptoms | 18 |
| OrphanetNr: | 228387 |
| OMIM Id: |
613330
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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: | No data available. |
| Inheritance: |
Autosomal recessive [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:
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(HPO:0009714) | Abnormality of the epididymis | 2 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0003521) | Disproportionate short-trunk short stature | 29 / 7739 | ||||
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(HPO:0002857) | Genu valgum | 144 / 7739 | ||||
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(HPO:0100569) | Abnormal vertebral ossification | 1 / 7739 | ||||
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(HPO:0000946) | Hypoplastic ilia | 21 / 7739 | ||||
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(HPO:0100255) | Metaphyseal dysplasia | 26 / 7739 | ||||
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(HPO:0003025) | Metaphyseal irregularity | 42 / 7739 | ||||
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(HPO:0008788) | Delayed pubic bone ossification | 5 / 7739 | ||||
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
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(HPO:0004288) | Pseudoepiphyses of hand bones | 1 / 7739 | ||||
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(HPO:0010580) | Enlarged epiphyses | 14 / 7739 | ||||
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(HPO:0000773) | Short ribs | 70 / 7739 | ||||
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(HPO:0002970) | Genu varum | 60 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification ... |
| Clinical Description OMIM |
Silverman and Reiley (1985) suggested the designation spondylo-megaepiphyseal-metaphyseal dysplasia for a novel disorder that they identified in 8 patients. The disorder showed some resemblance to severe cleidocranial dysplasia (CCD; 119600) but lacked the cranial and clavicular features of ... |
| Molecular genetics OMIM |
In affected members of 3 families segregating SMMD, Hellemans et al. (2009) identified homozygous inactivating mutations in the NKX3-2 gene (602183.0001-602183.0003). Hellemans et al. (2009) concluded that identification of homozygous inactivating mutations in the NKX3-2 gene underscores the ... |