Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation; Mdfpmr

Description

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation; Mdfpmr

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Cognitive impairment

And another 49 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation; Mdfpmr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Macrocephaly, dysmorphic facies, and psychomotor retardation (sequence analysis of HERC1 gene).

By CGC Genetics (Portugal).

HERC1
Specificity
100 %
Genes
100 %
Macrocephaly, dysmorphic facies, and psychomotor retardation (sequence analysis of HERC1 gene).

By CGC Genetics (Portugal).

HERC1
Specificity
100 %
Genes
100 %
HERC1.

By Fulgent Genetics Fulgent Genetics (United States).

HERC1
Specificity
100 %
Genes
100 %

We have -2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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