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Lessel-kubisch syndrome(LSKB)

MedGen UID:
1684750
Concept ID:
C5231460
Disease or Syndrome
Synonyms: LESSEL-KUBISCH SYNDROME; LSKB
 
Gene (location): MDM2 (12q15)
 
Monarch Initiative: MONDO:0032868
OMIM®: 618681

Definition

Lessel-Kubisch syndrome (LSKB) is characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes. Renal failure-associated hypertension and hypogonadism have also been observed (Lessel et al., 2017). [from OMIM]

Clinical features

From HPO
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Abnormally high-pitched voice
MedGen UID:
66836
Concept ID:
C0241703
Finding
A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Narrow nasal bridge
MedGen UID:
1641596
Concept ID:
C4551564
Finding
Decreased width of the bony bridge of the nose.
Premature graying of hair
MedGen UID:
75524
Concept ID:
C0263498
Finding
Development of gray hair at a younger than normal age.
Sparse pubic hair
MedGen UID:
388095
Concept ID:
C1858573
Finding
Reduced number or density of pubic hair.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Diagnosis

Tibesar RJ, Scott AR
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Curr Opin Neurol 2021 Oct 1;34(5):714-720. doi: 10.1097/WCO.0000000000000963. PMID: 34914668
Meier-Schiesser B, French LE
J Dtsch Dermatol Ges 2021 Mar;19(3):400-426. Epub 2021 Feb 23 doi: 10.1111/ddg.14332. PMID: 33620111
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Therapy

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Prognosis

Košutova P, Mikolka P
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Clinical prediction guides

Valle L, Monahan KJ
Lancet Gastroenterol Hepatol 2024 Jan;9(1):68-82. Epub 2023 Nov 4 doi: 10.1016/S2468-1253(23)00240-6. PMID: 37931640
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Recent systematic reviews

Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
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