Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities

Description

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations

Clinical Features

Top most frequent phenotypes and symptoms related to Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Growth delay
  • Nystagmus
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Visual impairment
And another 61 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
GAPO syndrome (sequence analysis of ANTXR1 gene).

By CGC Genetics in Portugal.

ANTXR1
Specificity
100 %
Genes
100 %
GAPO Syndrome via the ANTXR1 Gene.

By PreventionGenetics PreventionGenetics in United States.

ANTXR1
Specificity
100 %
Genes
100 %
Hemangioma capillary infantile.

By Centogene AG - the Rare Disease Company in Germany.

ANTXR1
Specificity
100 %
Genes
100 %
Hemangioma capillary infantile.

By Centogene AG - the Rare Disease Company in Germany.

ANTXR1
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
ANTXR1.

By Fulgent Genetics Fulgent Genetics in United States.

ANTXR1
Specificity
100 %
Genes
100 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
GAPO SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

ANTXR1
Specificity
100 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %

Alternate names

Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities Is also known as odontotrichomelic syndrome;growth delay-alopecia-pseudoanodontia-optic atrophy syndrome.



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other rare diseases that you may find interesting

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI