Dermatoleukodystrophy

MedGen UID:: 387794
•Concept ID:: C1857314
•: Disease or Syndrome

Synonym:	DERMATOLEUKODYSTROPHY
SNOMED CT:	Dermatoleukodystrophy (733044009)
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:0009093
OMIM®:	221790
Orphanet:	ORPHA1659

Definition

This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. [from SNOMEDCT_US]

Clinical features

From HPO

Large hands

MedGen UID:: 98097
•Concept ID:: C0426870
•: Finding

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Long foot

MedGen UID:: 154365
•Concept ID:: C0576225
•: Finding

Increased back to front length of the foot.

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Macrotia

MedGen UID:: 488785
•Concept ID:: C0152421
•: Congenital Abnormality

Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).

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Leukodystrophy

MedGen UID:: 6070
•Concept ID:: C0023520
•: Disease or Syndrome

Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.

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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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Abnormality of metabolism/homeostasis

MedGen UID:: 867398
•Concept ID:: C4021768
•: Finding

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Prominent nose

MedGen UID:: 98423
•Concept ID:: C0426415
•: Finding

Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.

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Premature skin wrinkling