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Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

Disease Export to PDF
Name:
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Description:
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.
ORPHAcode:
314394
Synonyms:
SOFT syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
POC1A
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Growth retardation/short stature (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 98.48 1
    ALPL 99.97 1
    ANKRD11 100.00 1
    ARCN1 99.91 1
    ARID1A 98.84 1
    ARID1B 97.80 1
    ARID2 99.96 1
    BMP2 99.97 1
    BRAF 98.17 1
    BTK 99.34 1
    CBL 99.89 1
    CCDC8 100.00 1
    CDC45 100.00 1
    CDC6 99.94 1
    CDKN1C 97.19 1
    CDT1 94.33 1
    CREBBP 99.91 1
    CUL7 100.00 1
    DHCR7 100.00 1
    DVL1 100.00 1
    EP300 99.96 1
    FGD1 98.85 1
    FGFR3 99.67 1
    FLNA 99.89 1
    GH1 100.00 1
    GHR 99.78 1
    GHRHR 99.79 1
    GHSR 99.99 1
    GMNN 99.70 1
    HESX1 99.81 1
    HMGA2 72.70 1
    HRAS 100.00 1
    IGF1 99.96 1
    IGF1R 99.98 1
    IGF2 100.00 1
    IGFALS 100.00 1
    IHH 99.93 1
    KDM6A 98.95 1
    KMT2A 99.18 1
    KMT2D 99.98 1
    KRAS 99.92 1
    LZTR1 99.99 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK1 99.56 1
    MRAS 100.00 1
    NBAS 99.97 1
    NPR2 99.97 1
    NRAS 99.45 1
    OBSL1 99.32 1
    ORC1 99.96 1
    ORC4 99.90 1
    ORC6 99.91 1
    PAPPA2 99.91 1
    PIK3R1 99.80 1
    PLAG1 99.90 1
    POC1A 99.98 1
    POU1F1 99.92 1
    PPP1CB 99.99 1
    PTPN11 99.91 1
    RAF1 99.96 1
    RASA2 99.59 1
    RIT1 99.96 1
    RNPC3 99.76 1
    ROR2 99.24 1
    RRAS2 99.60 1
    SHOC2 99.81 1
    SHOX 94.81 1
    SMARCA4 99.98 1
    SMARCB1 100.00 1
    SOS1 99.81 1
    SOS2 99.70 1
    SOX3 97.93 1
    SPRED2 99.96 1
    SRCAP 99.97 1
    STAT5B 99.94 1
    TOP3A 99.95 1
    TRIM37 99.81 1
    WNT5A 99.96 1
    YY1 99.63 1