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). Autosomal recessive inheritance (Orphanet)

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.

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Tetraamelia

MedGen UID:: 444004
•Concept ID:: C2931216
•: Finding

Amelia of all four limbs.

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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.

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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.

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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.

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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.

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Cleft upper lip