NIH Rare Diseases :
52
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. 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
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
skin, and related phenotypes are
hearing impairment and
intellectual disability, severe
OMIM :
56
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 :
73
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.
