GTR Home > Conditions/Phenotypes > Oto-palato-digital syndrome, type II

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

  • Glossoptosis
  • Short stature
  • Broad thumb
  • Respiratory insufficiency
  • Hearing impairment
  • Femoral bowing
  • Tibial bowing
  • Prominent forehead
  • Prominent supraorbital ridges
  • Intellectual disability
  • Short metatarsal
  • Vertical clivus
  • Radial deviation of the 2nd finger
  • Nonossified fifth metatarsal
  • Rocker bottom foot
  • Hypoplastic ilia
  • Vertebral segmentation defect
  • Posteriorly rotated ears
  • Short hallux
  • Sclerosis of skull base
  • Midface retrusion
  • Bowing of the long bones
  • Cognitive impairment
  • Malar flattening
  • Broad face
  • Postnatal growth retardation
  • Downslanted palpebral fissures
  • Platyspondyly
  • Ulnar bowing
  • Wide anterior fontanel
  • Micrognathia
  • Craniofacial hyperostosis
  • Hydrocephalus
  • Rudimentary to absent fibulae
  • Cleft palate
  • Cryptorchidism
  • Hypospadias
  • Hydronephrosis
  • Narrow mouth
  • Abnormality of the fontanelles and cranial sutures
  • Hypertelorism
  • Abnormality of the nose
  • Low-set ears
  • Conductive hearing impairment
  • Pectus excavatum
  • Abnormality of the ribs
  • Short ribs
  • Narrow chest
  • Brachydactyly syndrome
  • Postaxial hand polydactyly
  • Congenital hip dislocation
  • Delayed closure of the anterior fontanelle
  • Omphalocele
  • Abnormality of the cardiac septa
  • Toe syndactyly
  • Bulbous tips of toes
  • Preaxial foot polydactyly
  • Frontal bossing
  • Encephalocele
  • Myelomeningocele
  • Abnormality of pelvic girdle bone morphology
  • Wormian bones
  • Scoliosis
  • Abnormality of the frontal sinuses
  • Radial bowing
  • Abnormality of the fibula
  • Elbow dislocation
  • Spondylolysis
  • Synostosis of carpal bones
  • Depressed nasal bridge
  • Irregular metacarpals
  • Aplasia/Hypoplasia of the lungs
  • Aplasia/Hypoplasia of the cerebellum
  • Tarsal synostosis
  • Aplasia/Hypoplasia of the thumb
  • Short thumb
  • Reduced number of teeth
  • Short metacarpal
  • Broad hallux
  • Overlapping fingers
  • Undulate clavicles
  • Abnormality of the upper urinary tract
  • Increased bone mineral density
  • Camptodactyly of finger
  • Displacement of the external urethral meatus
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