GTR Home > Conditions/Phenotypes > Oculofaciocardiodental syndrome

Disease characteristics

Excerpted from the GeneReview: Lenz Microphthalmia Syndrome
Lenz microphthalmia syndrome (LMS) is characterized by unilateral or bilateral microphthalmia and/or clinical anophthalmia with malformations of the ears, teeth, fingers, skeleton, and/or genitourinary system. Microphthalmia is often accompanied by microcornea and glaucoma. Coloboma is present in approximately 60% of microphthalmic eyes with severity ranging from isolated iris coloboma to coloboma of the ciliary body, choroid, and optic disk. Ears may be low set, anteverted, posteriorly rotated, simple, cup-shaped, or abnormally modeled. Hearing loss has been observed. Dental findings include irregularly shaped, missing, or widely spaced teeth. Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated lumbar lordosis, long cylindrical thorax, and webbed neck. Genitourinary anomalies include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. Approximately 60% of affected males have mild-to-severe intellectual disability or developmental delay.

Available tests

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Associated genes

Clinical features

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  • Short stature
  • Bifid nasal tip
  • Broad nasal tip
  • Long face
  • Narrow face
  • Prominent nasal bridge
  • Congenital cataract
  • Persistent hyperplastic primary vitreous
  • Cognitive impairment
  • Ventricular septal defect
  • 2-3 toe syndactyly
  • Long philtrum
  • Delayed eruption of teeth
  • Cataract
  • Glaucoma
  • Retinal detachment
  • Cleft palate
  • Feeding difficulties in infancy
  • Intestinal malrotation
  • Submucous cleft hard palate
  • Bifid uvula
  • Sensorineural hearing impairment
  • Microcornea
  • Ptosis
  • Microphthalmos
  • Visual loss
  • Thick eyebrow
  • Exotropia
  • Blepharophimosis
  • Iris coloboma
  • Oligodontia
  • Dental malocclusion
  • Ectopia lentis
  • Septate vagina
  • Intellectual disability, mild
  • Defect in the atrial septum
  • Abnormality of the mitral valve
  • Mitral valve prolapse
  • Abnormality of the pulmonary valve
  • Patent ductus arteriosus
  • Abnormality of the cardiac septa
  • Hammertoe
  • Toe syndactyly
  • Camptodactyly of toe
  • Highly arched eyebrow
  • Scoliosis
  • Genu valgum
  • Cubitus valgus
  • Radioulnar synostosis
  • Midline defect of the nose
  • Clinodactyly of the 5th finger
  • Single median maxillary incisor
  • Persistence of primary teeth
  • Laterally curved eyebrow
  • Aplasia/Hypoplasia affecting the eye
  • Aplasia/Hypoplasia of the thumb
  • Reduced number of teeth
  • Increased number of teeth
  • Fused teeth
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