Variants
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3M syndrome 2

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Description

Three M syndrome is characterized by severe pre- and postnatal growth deficiency (final height 5-6 SD below the mean; i.e., 120-130 cm), characteristic facies, and normal intelligence. Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. Males with three M syndrome have hypogonadism and occasionally hypospadias.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

205

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Genes

External Links

  • OMIM

    612921

  • Orphanet
  • HPO
  • Medgen

    C2752041

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