Zimmermann-Laband syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE AND EARS, AND SPLENOMEGALY ZLS laband syndrome Gingival fibromatosis - hepatosplenomegaly - other anomalies |
| Number of Symptoms | 74 |
| OrphanetNr: | 3473 |
| OMIM Id: |
135500
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| ICD-10: |
Q87.8 |
| 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: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000518) | Cataract | 454 / 7739 | ||||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0001638) | Cardiomyopathy | Occasional [Orphanet] | 192 / 7739 | |||
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(HPO:0005113) | Dilatation of the aortic arch | 12 / 7739 | ||||
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(HPO:0001643) | Patent ductus arteriosus | Occasional [Orphanet] | 228 / 7739 | |||
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(HPO:0000158) | Macroglossia | Occasional [Orphanet] | 119 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0006887) | Intellectual disability, progressive | rare [HPO] | 68 / 7739 | |||
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(HPO:0010864) | Intellectual disability, severe | rare [HPO:skoehler] | 120 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0001187) | Hyperextensibility of the finger joints | 12 / 7739 | ||||
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(HPO:0001857) | Short distal phalanx of toe | 6 / 7739 | ||||
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(HPO:0011305) | Partial absence of toe | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Occasional [Orphanet] | 172 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0003298) | Spina bifida occulta | 67 / 7739 | ||||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000664) | Synophrys | 112 / 7739 | ||||
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(HPO:0000574) | Thick eyebrow | 96 / 7739 | ||||
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(HPO:0002162) | Low posterior hairline | Frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0001007) | Hirsutism | 91 / 7739 | ||||
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(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001792) | Small nail | 55 / 7739 | ||||
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(HPO:0001804) | Hypoplastic fingernail | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0005242) | Extrahepatic biliary duct atresia | 9 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Frequent [Orphanet] | 337 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | 206 / 7739 | ||||
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(HPO:0000040) | Long penis | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0000280) | Coarse facial features | Very frequent [Orphanet] | 189 / 7739 | |||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0012471) | Thick vermilion border | Frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0000168) | Abnormality of the gingiva | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000169) | Gingival fibromatosis | 14 / 7739 | ||||
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(HPO:0000212) | Gingival overgrowth | 43 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000684) | Delayed eruption of teeth | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0011069) | Increased number of teeth | Occasional [Orphanet] | 39 / 7739 | |||
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(HPO:0000221) | Furrowed tongue | Occasional [Orphanet] | 24 / 7739 | |||
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(HPO:0000288) | Abnormality of the philtrum | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0000154) | Wide mouth | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000436) | Abnormality of the nasal tip | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000445) | Wide nose | Very frequent [Orphanet] | 190 / 7739 | |||
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(HPO:0010516) | Thymus hyperplasia | Occasional [Orphanet] | 4 / 7739 | |||
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(HPO:0009748) | Large earlobe | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0000787) | Nephrolithiasis | rare [HPO:skoehler] | 78 / 7739 | |||
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(HPO:0002616) | Aortic root dilatation | 27 / 7739 | ||||
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(HPO:0001507) | Growth abnormality | 36 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0400004) | Long ear | Very frequent [Orphanet] | 94 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(OMIM) | Birthweight greater than 90th percentile | 1 / 7739 | ||||
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(OMIM) | Diabetes, nonautoimmune (rare) | 1 / 7739 | ||||
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(OMIM) | Dry, thick skin | 1 / 7739 | ||||
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(OMIM) | Fleshy nose | 1 / 7739 | ||||
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(OMIM) | Long, lobulated ears | 1 / 7739 | ||||
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(OMIM) | Mental retardation, severe in some patients | 1 / 7739 | ||||
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(OMIM) | Poor muscle bulk | 1 / 7739 | ||||
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(OMIM) | Prominent mandible | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010). ... |
| Clinical Description OMIM |
Zimmermann (1928) is credited with the first description of this disorder in 2 patients (Kim et al., 2007). Laband et al. (1964) and Alavandar (1965) reported 2 Asiatic Indian families (one living in the Caribbean and ... |
| Population genetics OMIM | Kim et al. (2007) stated that 39 patients with ZLS had been reported worldwide. |