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Odontotrichomelic syndrome

MedGen UID:
443944
Concept ID:
C2930960
Disease or Syndrome
Synonyms: Freire-Maia odontotrichomelic syndrome; Odontotrichomelic hypohidrotic dysplasia; Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
SNOMED CT: Odontotrichomelic syndrome (239028001); Freire-Maia syndrome (239028001)
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:0010111
OMIM®: 273400
Orphanet: ORPHA2723

Definition

A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970. [from ORDO]

Clinical features

From HPO
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Tetraamelia
MedGen UID:
444004
Concept ID:
C2931216
Finding
Amelia of all four limbs.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Abnormality of the neck
MedGen UID:
540042
Concept ID:
C0266623
Congenital Abnormality
An abnormality of the neck.
Nasolacrimal duct obstruction
MedGen UID:
226915
Concept ID:
C1281931
Finding
Blockage of the lacrimal duct.
Ectodermal dysplasia
MedGen UID:
8544
Concept ID:
C0013575
Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Hypoplastic nipples
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Underdevelopment of the nipple.
Hypoplastic areola
MedGen UID:
477663
Concept ID:
C3276032
Finding
Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOdontotrichomelic syndrome

Recent clinical studies

Prognosis

Zankl A, Scheffer H, Schinzel A
Am J Med Genet A 2004 May 15;127A(1):74-80. doi: 10.1002/ajmg.a.20646. PMID: 15103722

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