Apert Syndrome

Description

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

Clinical Features

Top most frequent phenotypes and symptoms related to Apert Syndrome

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate
  • Visual impairment
  • Depressed nasal bridge
  • Hypertension
  • Optic atrophy
  • Downslanted palpebral fissures

And another 38 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.

Alternative names

Apert Syndrome Is also known as acrocephalosyndactyly type 1, acrocephalosyndactyly, type i, acs i, acs1.

Researches and researchers

Doctors, researchs, and experts related to Apert Syndrome extracted from public data.

Apert Syndrome Experts map



Current Researchs and researchers

  • MAGDEBURG — Dr Anke RISSMANN

    Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Universit√§tsklinikum Magdeburg A.√∂.R
    • Research area/topic::

      International Clearinghouse for Birth Defects Monitoring Systems


  • NEWTOWNABBEY — Pr Helen DOLK

    Investigator of research project - Coordinator of research network - Coordinator of patient registry network

    • Institution/s:
      — Room 12L09, University of Ulster
      — University of Ulster
    • Research area/topic::

      Epidemiological studies on congenital anomaly prevalence, risk factors, prevention and prenatal screening



Mendelian

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Apert Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS Craniosynostosis Panel.

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

TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
15 %
Genes
100 %
FGFR2-related disorders.

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

FGFR2
Specificity
100 %
Genes
100 %
Fibroblast Growth Factor Receptor 2 (FGFR2)-related Disorders Sequencing.

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

FGFR2
Specificity
100 %
Genes
100 %
LADD Syndrome, FGFR2.

By Center for Human Genetics, Inc (United States).

FGFR2
Specificity
100 %
Genes
100 %
Apert Syndrome - FGFR2 Targeted Mutation Testing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

FGFR2
Specificity
100 %
Genes
100 %
Beare-Stevenson Syndrome - FGFR2 Targeted Mutations.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

FGFR2
Specificity
100 %
Genes
100 %

We have 194 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47 CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

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