Apert Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Apert Syndrome

FGFR2

View recommended genes panels

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.

Click here to know more about Mendelian.

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:
  — Universitätsklinikum Magdeburg A.ö.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

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 Panel complete gene list RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NRAS, PTPN11, RAD21, RAF1 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 Panel complete gene list BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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