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Ackerman syndrome

MedGen UID:
395426
Concept ID:
C1860167
Disease or Syndrome
Synonyms: Juvenile glaucoma with unusual upper lip and dental roots; MOLAR ROOTS, PYRAMIDAL, WITH JUVENILE GLAUCOMA AND UNUSUAL UPPER LIP; Pyramidal molars, glaucoma, abnormal upper lip
SNOMED CT: Ackerman syndrome (722280000)
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).
 
Monarch Initiative: MONDO:0008706
OMIM®: 200970
Orphanet: ORPHA2561

Definition

Ackerman syndrome has characteristics of pyramidal molar roots and taurodontism associated with variable anomalies. It has been described in two generations of one family. Both parents and their six siblings had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. [from SNOMEDCT_US]

Clinical features

From HPO
Taurodontia
MedGen UID:
75596
Concept ID:
C0266039
Disease or Syndrome
Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.
Broad philtrum
MedGen UID:
344210
Concept ID:
C1854111
Finding
Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAckerman syndrome
Follow this link to review classifications for Ackerman syndrome in Orphanet.

Recent clinical studies

Diagnosis

Hussain K, Thomas L, Shaikh NA, Ahmed Abdul Hamid B
BMJ Case Rep 2015 Feb 9;2015 doi: 10.1136/bcr-2014-207054. PMID: 25666244Free PMC Article

Therapy

Hussain K, Thomas L, Shaikh NA, Ahmed Abdul Hamid B
BMJ Case Rep 2015 Feb 9;2015 doi: 10.1136/bcr-2014-207054. PMID: 25666244Free PMC Article

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