Abruzzo-erickson Syndrome

Description

Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Abruzzo-erickson Syndrome

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Epicanthus
  • Brachydactyly
  • Atrial septal defect
  • Abnormality of the dentition

And another 20 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.

Alternative names

Abruzzo-erickson Syndrome Is also known as cleft palate-coloboma-deafness syndrome, charge-like syndrome, charge-like syndrome, x-linked.

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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Abruzzo-erickson Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
TBX22.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TBX22
Specificity
100 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2 , (...)

View the complete list with 114 more genes
Specificity
1 %
Genes
100 %
TBX22.

By Fulgent Genetics Fulgent Genetics (United States).

TBX22
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5 , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Cleft Lip/Palate and Associated Syndromes Panel.

By Blueprint Genetics (Finland).

TBX22, KDM6A, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, KMT2D, MSX1
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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