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Disease characteristics

Excerpted from the GeneReview: Otopalatodigital Spectrum Disorders
The otopalatodigital (OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type I (OPD1). Otopalatodigital syndrome type II (OPD2). Frontometaphyseal dysplasia (FMD). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD, females are less severely affected than related affected males. Males do not experience progression of skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. Prenatal lethality is most common in males with MNS. TODPD is a female limited condition, characterized by terminal skeletal dysplasia, pigmentary defects of the skin, and recurrent digital fibromata.

Associated genes

  • Also known as: XX-FW83128A1.1, ABP-280, ABPX, CSBS, CVD1, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD, FLNA
    Summary: filamin A, alpha

Clinical features

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  • Hirsutism
  • Ulnar deviation of finger
  • Coxa valga
  • Long foot
  • Arachnodactyly
  • Ankle contracture
  • Small chin
  • Prominent supraorbital ridges
  • Pointed chin
  • Intellectual disability
  • Antegonial notching of mandible
  • Anteriorly placed odontoid process
  • Increased density of long bone diaphyses
  • Partial fusion of carpals
  • Partial fusion of tarsals
  • Craniosynostosis
  • Coarse facial features
  • Bowing of the long bones
  • Amyotrophy
  • Downslanted palpebral fissures
  • Delayed eruption of teeth
  • Micrognathia
  • Large foramen magnum
  • Craniofacial hyperostosis
  • Selective tooth agenesis
  • Ureteral stenosis
  • Hydroureter
  • Hydronephrosis
  • Abnormality of the palate
  • High palate
  • Hypertelorism
  • Conductive hearing impairment
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Dental malocclusion
  • Abnormality of the urethra
  • Abnormality of the metaphyses
  • Wrist flexion contracture
  • Limitation of joint mobility
  • Abnormality of the larynx
  • Mitral valve prolapse
  • Cor pulmonale
  • Complete atrioventricular canal defect
  • Scoliosis
  • Abnormality of the frontal sinuses
  • Tracheal stenosis
  • Genu valgum
  • Fused cervical vertebrae
  • Elbow flexion contracture
  • Elbow dislocation
  • Abnormal form of the vertebral bodies
  • Scapular winging
  • Synostosis of carpal bones
  • Accelerated skeletal maturation
  • Long phalanx of finger
  • Persistence of primary teeth
  • Knee flexion contracture
  • Abnormality of dental morphology
  • Coat hanger sign of ribs
  • Aplasia/Hypoplasia of the thumb
  • Broad phalanges of the hand
  • Stridor
  • Camptodactyly of finger
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