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Haim-Munk syndrome(HMS)

MedGen UID:: 344539
•Concept ID:: C1855627
•: Disease or Syndrome

Synonyms:	Cochin Jewish disorder; HMS; Keratosis palmoplantaris with periodontopathia and onychogryposis
SNOMED CT:	Haim Munk syndrome (719973009); Keratosis palmoplantaris with periodontopathia and onychogryposis syndrome (719973009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	CTSC (11q14.2)

Monarch Initiative:	MONDO:0009491
OMIM®:	245010
Orphanet:	ORPHA2342

Definition

Haim-Munk syndrome is an autosomal recessive disorder characterized by palmoplantar keratoderma, severe periodonitis, arachnodactyly, acroosteolysis, atrophic changes of the nails, and a radiographic deformity of the fingers (summary by Hart et al., 2000). [from OMIM]

Clinical features

From HPO

Arachnodactyly

MedGen UID:: 2047
•Concept ID:: C0003706
•: Congenital Abnormality

Abnormally long and slender fingers ("spider fingers").

See: Feature record | Search on this feature

Pes planus

MedGen UID:: 42034
•Concept ID:: C0016202
•: Anatomical Abnormality

A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.

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Acroosteolysis

MedGen UID:: 183017
•Concept ID:: C0917990
•: Disease or Syndrome

Dissolution or degeneration of bone tissue of the phalanges of the hand.

See: Feature record | Search on this feature

Congenital palmoplantar hyperkeratosis

MedGen UID:: 383728
•Concept ID:: C1855633
•: Congenital Abnormality

Abnormal thickening of the skin on the palms and soles that is present at birth.

See: Feature record | Search on this feature

Tapering pointed ends of distal finger phalanges

MedGen UID:: 870627
•Concept ID:: C4025078
•: Anatomical Abnormality

A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).

See: Feature record | Search on this feature

Recurrent bacterial skin infections

MedGen UID:: 322727
•Concept ID:: C1835686
•: Finding

Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.

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Severe periodontitis

MedGen UID:: 871390
•Concept ID:: C4025886
•: Disease or Syndrome

A severe form of periodontitis.

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Onychogryposis

MedGen UID:: 82671
•Concept ID:: C0263537
•: Disease or Syndrome

Nail that appears thick when viewed on end.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of limbs
Abnormality of the immune system
- Recurrent bacterial skin infections
- Severe periodontitis
Abnormality of the integument
- Onychogryposis

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHaim-Munk syndrome

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
- Haim-Munk syndrome

Follow this link to review classifications for Haim-Munk syndrome in Orphanet.

Recent clinical studies

Diagnosis

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

Molitor A, Prud'homme T, Miao Z, Conrad S, Bloch-Zupan A, Pichot A, Hanauer A, Isidor B, Bahram S, Carapito R
J Hum Genet 2019 Jul;64(7):689-694. Epub 2019 May 8 doi: 10.1038/s10038-019-0615-3. PMID: 31068678

Haim Munk syndrome: report of two siblings of northern India treated with acitretin.

Mohan RS, Verma S
Indian J Dermatol Venereol Leprol 2011 Mar-Apr;77(2):252. doi: 10.4103/0378-6323.77487. PMID: 21393975

Cysteine proteases as disease markers.

Berdowska I
Clin Chim Acta 2004 Apr;342(1-2):41-69. doi: 10.1016/j.cccn.2003.12.016. PMID: 15026265

See all (3)

Therapy

Haim Munk syndrome: report of two siblings of northern India treated with acitretin.

Mohan RS, Verma S
Indian J Dermatol Venereol Leprol 2011 Mar-Apr;77(2):252. doi: 10.4103/0378-6323.77487. PMID: 21393975

Destructive arthritis in a patient with Haim-munk syndrome.

Lidar M, Zlotogorski A, Langevitz P, Tweezer-Zaks N, Zandman-Goddard G
J Rheumatol 2004 Apr;31(4):814-7. PMID: 15088315

See all (2)

Prognosis

Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.

Pap ÉM, Farkas K, Tóth L, Fábos B, Széll M, Németh G, Nagy N
Clin Exp Dermatol 2020 Jul;45(5):555-559. Epub 2020 Mar 9 doi: 10.1111/ced.14171. PMID: 31925812

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

Cysteine proteases as disease markers.

Berdowska I
Clin Chim Acta 2004 Apr;342(1-2):41-69. doi: 10.1016/j.cccn.2003.12.016. PMID: 15026265

See all (3)