Zimmermann–Laband syndrome

Zimmermann–Laband syndrome (ZLS),^[1] is an extremely rare^[2] autosomal dominant^[3] congenital disorder.

Symptoms[edit | edit source]

Symptoms include gingival fibromatosis, associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly.^[4] The nose and pinnae are usually large and poorly developed, which gives the individuals with the syndrome abnormal facial characteristics. Mental retardation may also occur.^[5]^[6] Both males and females are equally affected. Gingival fibromatosis is usually present at birth or appears short after.^[7]^[6] The term Zimmermann–Laband was coined by Carl Jacob Witkop in 1971.^[6]

Epidemiology[edit | edit source]

Forty-four patients have been reported to date.

Cause[edit | edit source]

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.

Inheritance[edit | edit source]

Autosomal dominant pattern, a 50/50 chance.

Zimmerman–Laband syndrome is inherited in an autosomal dominant pattern. This means the defective gene is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

The condition is caused by mutations in a potassium channel gene – KCNH1.^[8]

Diagnosis[edit | edit source]

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.

Treatment[edit | edit source]

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[edit | edit source]

Prognosis is dominated by the risk of recurrence, which is high. Physical systemic evaluation is essential. The syndrome is not life-threatening.

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[1] Zimmermann–Laband Syndrome – What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary

[2] Zimmerman Laband syndrome; Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly at NIH's Office of Rare Diseases

[3] ↑

[4] ↑

[5] Cat.Inist

[WhoName-6] 6.0 ^6.1 ^6.2 synd/3783 at Who Named It?

[PeaceHealth-7] Cite error: Invalid <ref> tag; no text was provided for refs named PeaceHealth

[M.C3.A9garban.C3.A92016-8] Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L1 (2016) Temple-Baraitser Syndrome and Zimmermann–Laband Syndrome: one clinical entity? BMC Med Genet. 17(1):42. doi: 10.1186/s12881-016-0304-4

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v t e Congenital malformations and deformations of skin appendages
Nail disease	Anonychia Leukonychia Pachyonychia congenita/Onychauxis Koilonychia
Hair disease	hypotrichosis/abnormalities: keratin disease Monilethrix IBIDS syndrome Sabinas brittle hair syndrome Pili annulati Pili torti Uncombable hair syndrome Björnstad syndrome Giant axonal neuropathy with curly hair hypertrichosis: Zimmermann–Laband syndrome

v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome