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). Autosomal recessive inheritance (Orphanet)

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

Taurodontism

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Show all Hide all