Pallister-hall Syndrome

Description

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

Clinical Features

Top most frequent phenotypes and symptoms related to Pallister-hall Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Ptosis
  • Brachydactyly
  • Intrauterine growth retardation
  • Macrocephaly

And another 90 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

Pallister-hall Syndrome Is also known as hypothalamic hamartoblastoma syndrome.

Researches and researchers

Doctors, researchs, and experts related to Pallister-hall Syndrome extracted from public data.

Pallister-hall Syndrome Experts map



Current Researchs and researchers

  • BRON — Pr Alexis ARZIMANOGLOU

    Investigator of clinical trial - Coordinator of research network

    • Institution/s:
      — CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
    • Research area/topic::

      NEUROPED: European network of reference for rare paediatric neurological diseases



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Pallister-hall Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Overgrowth/Macrocephaly Panel.

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

MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN
Specificity
8 %
Genes
100 %
GLI3-related Disorders.

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

GLI3
Specificity
100 %
Genes
100 %
Comprehensive Brain Malformation Panel.

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

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Craniosynostosis.

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

SKI, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, ASXL1, WDR19, WDR35, IFT43, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Macrocephaly.

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

MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN
Specificity
10 %
Genes
100 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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