Marshall syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MRSHS |
| Number of Symptoms | 78 |
| OrphanetNr: | 560 |
| OMIM Id: |
154780
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| ICD-10: |
Q87.0 |
| UMLs: |
C0265235 |
| MeSH: |
C536025 |
| MedDRA: |
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| Snomed: |
33410002 |
Prevalence, inheritance and age of onset:
| Prevalence: | > 12 families [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Rare disease with glaucoma as a major feature -Rare eye disease -Rare genetic disease Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic myopia -Rare eye disease -Rare genetic disease Type 11 collagen-related bone disorder -Rare genetic disease |
Symptom Information:
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000520) | Proptosis | Frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
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(HPO:0001083) | Ectopia lentis | Frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0012019) | Lens luxation | 2 / 7739 | ||||
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(HPO:0000655) | Vitreoretinal degeneration | 8 / 7739 | ||||
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(HPO:0000541) | Retinal detachment | Frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0004327) | Abnormality of the vitreous humor | Frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000565) | Esotropia | 58 / 7739 | ||||
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0000505) | Visual impairment | Frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000501) | Glaucoma | Frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0002986) | Radial bowing | 27 / 7739 | ||||
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(HPO:0003031) | Ulnar bowing | 16 / 7739 | ||||
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(HPO:0002857) | Genu valgum | Frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0006407) | Irregular distal femoral epiphysis | 2 / 7739 | ||||
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(HPO:0012283) | Small distal femoral epiphysis | 1 / 7739 | ||||
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(HPO:0006456) | Irregular proximal tibial epiphyses | 1 / 7739 | ||||
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(HPO:0012284) | Small proximal tibial epiphyses | 1 / 7739 | ||||
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(HPO:0006095) | Wide tufts of distal phalanges | 1 / 7739 | ||||
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(HPO:0002673) | Coxa valga | 57 / 7739 | ||||
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(HPO:0000946) | Hypoplastic ilia | 21 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0010650) | Hypoplasia of the premaxilla | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000327) | Hypoplasia of the maxilla | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0009119) | Aplasia/Hypoplasia of the frontal sinuses | Frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0002688) | Absent frontal sinuses | 12 / 7739 | ||||
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0004437) | Cranial hyperostosis | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Occasional [Orphanet] | 366 / 7739 | |||
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(HPO:0002684) | Thickened calvaria | 32 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0002758) | Osteoarthritis | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Occasional [Orphanet] | 117 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0012368) | Flat face | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000272) | Malar flattening | Very frequent [Orphanet] | 277 / 7739 | |||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0012471) | Thick vermilion border | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0002705) | High, narrow palate | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000675) | Macrodontia of permanent maxillary central incisor | 7 / 7739 | ||||
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(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0000201) | Pierre-Robin sequence | 20 / 7739 | ||||
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(HPO:0000215) | Thick upper lip vermilion | 17 / 7739 | ||||
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(HPO:0009924) | Aplasia/Hypoplasia involving the nose | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0003196) | Short nose | 264 / 7739 | ||||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0000606) | Abnormality of the periorbital region | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0008625) | Severe sensorineural hearing impairment | 150 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0002514) | Cerebral calcification | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0005462) | Calcification of falx cerebri | 6 / 7739 | ||||
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(HPO:0100250) | Meningeal calcification | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(OMIM) | Falx, tentorial, and meningeal calcifications | 1 / 7739 | ||||
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(OMIM) | Mild platyspondyly | 14 / 7739 | ||||
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(OMIM) | Outward radial bowing | 1 / 7739 | ||||
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(OMIM) | Outward ulnar bowing | 1 / 7739 | ||||
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(OMIM) | Short, depressed nose | 1 / 7739 | ||||
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(OMIM) | Small, irregular distal femoral epiphyses | 1 / 7739 | ||||
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(OMIM) | Small, irregular proximal tibial epiphyses | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
The distinctness of the Stickler (108300) and Marshall syndromes was strongly supported by the work of Ayme and Preus (1984) who surveyed published reports on the 2 syndromes. A set of 18 patients with clinical description, photographs, and ... |
| Molecular genetics OMIM |
In affected members in a large kindred with Marshall syndrome in which linkage analysis had mapped the phenotype to the 1p21 region, Griffith et al. (1998) demonstrated a splice-donor site mutation in the COL11A1 gene (120280.0002). The results ... |