De Sanctis-cacchione Syndrome

Description

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to De Sanctis-cacchione Syndrome

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment
  • Spasticity
  • Cerebellar atrophy
  • Areflexia
  • Hyporeflexia
  • Severe short stature

And another 19 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (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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De Sanctis-cacchione Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
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
50 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BDNF, RPS6KA3, SCN1A, BRAF, SLC2A1, SLC6A4, SLC9A6, SMC1A, KDM5C, SOS1, CDKL5, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
ERCC6. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ERCC6
Specificity
100 %
Genes
50 %
Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene).

By CGC Genetics (Portugal).

ERCC6
Specificity
100 %
Genes
50 %
Cockayne syndrome B (sequence analysis of ERCC6 gene).

By CGC Genetics (Portugal).

ERCC6
Specificity
100 %
Genes
50 %

We have 64 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIGONOCEPHALY 2; TRIGNO2 INFANTILE SIALIC ACID STORAGE DISEASE; ISSD MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 COLD-INDUCED SWEATING SYNDROME 2; CISS2 BROOKE-SPIEGLER SYNDROME; BRSS FARBER LIPOGRANULOMATOSIS; FRBRL

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