Zimmermann-Laband Syndrome 1

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OMIM 57 135500 MedGen 42 C0796013 MeSH 44 D000015

SNOMED-CT via HPO 69 263681008 88673001 109620006 58569000 441787004 441798003 54711002 27272007 109504005 22810007 253251006 103276001 15188001 343087000 95828007 249321001 128306009 193570009 247053007 57190000 253207002 5639000 399939002 128613002 246545002 313307000 84757009 91175000 398151007 398152000 396347007 57809008 85898001 83330001 16294009 11375002 80515008 251036003 111266001 64217002 76916001 40700009 more UMLS 73 C0796013

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3473Disease definitionZimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.EpidemiologyForty-four patients have been reported to date.Clinical descriptionCoarse facial appearance includes bulbous soft nose, thickened lips, thick and floppy ears and gingival hypertrophy or fibromatosis. The syndrome has a highly variable clinical expression, and other possible features include hyperextensibility of joints, hepatosplenomegaly, hypertrichosis and hearing loss. Intellectual deficit is occasional and usually mild to moderate. The overgrown gingival tissues can affect the ability to speak.EtiologyThe genetic basis is unknown. Mapping of breakpoints of two translocations t(3;8) and t(3;17) found in two patients with the typical clinical features of Zimmermann-Laband syndrome defined a common breakpoint region located in 3p14.3 but the lack of a specific coding-sequence lesion in the common region suggests that either some other type of genetic defect in this vicinity, or an alteration elsewhere in the genome, could be responsible for ZLS. Autosomal dominant inheritance has been suggested.Differential diagnosisThe differential diagnosis includes other defined syndromes of hirsutism and coarsening of the face. Isolated gingival fibromatosis has been documented as a dominantly transmissible trait.Management and treatmentTreatment consists of surgical removal of the hyperplasic fibrous tissue and appropriate orthodontic treatment to improve esthetic appearance and eruption of the non-erupted teeth.PrognosisPrognosis is dominated by the risk of recurrence, which is high. Physical systemic evaluation is essential. The syndrome is not life-threatening.Visit the Orphanet disease page for more resources.

MalaCards based summary : Zimmermann-Laband Syndrome 1, also known as laband syndrome, is related to zimmermann-laband syndrome and gingival fibromatosis, and has symptoms including seizures An important gene associated with Zimmermann-Laband Syndrome 1 is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Affiliated tissues include skin, and related phenotypes are high palate and seizures

OMIM : ⁵⁷ 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). (135500)

UniProtKB/Swiss-Prot : ⁷⁵ Zimmermann-Laband syndrome 1: A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears.

Clinical features from OMIM:

135500

Search Clinical Trials , NIH Clinical Center for Zimmermann-Laband Syndrome 1

Search GEO for disease gene expression data for Zimmermann-Laband Syndrome 1.