Zimmermann-Laband Syndrome 1 (ZLS1)

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OMIM® 57 135500 OMIM Phenotypic Series 57 PS135500 MeSH 44 D000015

MedGen 41 C0796013 C4551773 SNOMED-CT via HPO 68 103276001 109504005 109620006 111266001 11375002 128306009 128613002 15188001 16294009 193570009 22810007 246545002 247053007 249321001 251036003 253207002 253251006 263681008 27272007 313307000 343087000 396347007 398151007 398152000 399939002 40700009 441787004 441798003 54711002 5639000 57190000 57809008 58569000 64217002 76916001 80515008 83330001 84757009 85898001 88673001 91175000 95828007 more UMLS 70 C0796013

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3473 Definition Zimmermann-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. Epidemiology Forty-four patients have been reported to date. Clinical description Coarse 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. Etiology The 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 diagnosis The 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 treatment Treatment consists of surgical removal of the hyperplasic fibrous tissue and appropriate orthodontic treatment to improve esthetic appearance and eruption of the non-erupted teeth. Prognosis Prognosis is dominated by the risk of recurrence, which is high. Physical systemic evaluation is essential. The syndrome is not life-threatening.

MalaCards based summary : Zimmermann-Laband Syndrome 1, also known as laband syndrome, is related to zimmermann-laband syndrome and hypertrichosis, 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 liver, and related phenotypes are hearing impairment and intellectual disability, severe

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² Zimmermann-Laband syndrome 1: A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS1 inheritance is autosomal dominant.

Clinical features from OMIM®:

135500 (Updated 20-May-2021)

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

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