Acrodysostosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Arkless-Graham syndrome Maroteaux-Malamut syndrome Acrodysplasia |
| Number of Symptoms | 35 |
| OrphanetNr: | 950 |
| OMIM Id: |
101800
614613 |
| ICD-10: |
Q75.4 |
| UMLs: |
C0220659 |
| MeSH: |
C538179 |
| MedDRA: |
|
| Snomed: |
66758006 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Acromelic dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Mandibulofacial dysostosis -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000303) | Mandibular prognathia | Frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0000248) | Brachycephaly | Frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0000689) | Dental malocclusion | Occasional [Orphanet] | 114 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0000194) | Open mouth | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0009924) | Aplasia/Hypoplasia involving the nose | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Very frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
|
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(HPO:0000327) | Hypoplasia of the maxilla | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Occasional [Orphanet] | 156 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0003416) | Spinal canal stenosis | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0010579) | Cone-shaped epiphysis | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0005616) | Accelerated skeletal maturation | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0003027) | Mesomelia | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000995) | Melanocytic nevus | Occasional [Orphanet] | 63 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0012815) | Hypoplastic female external genitalia | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|