Clinical Characteristics

Prenatal findings: Abnormal ultrasonographic findings involving brain, face, eyes and skeleton. Intra uterine growth retardation may also be an important finding in the affected individual.

Phenotypes involving central nervous system: Alobar holoprosencephaly and single median maxillary central incisor (mild form of holoprosencephaly), cerebellar vermis hypoplasia, agenesis/ dysgenesis of corpus callosum and microcephaly are the morphologic anomalies noted with this clinical entity. Intellectual quotient of all the affected individuals was noted to be normal.
The other symptoms may be seizures, delayed development or dysarthria.

Phenotypes involving face: Microphthalmia/anophthalmia, up-slanting palpebral fissures, puffy eyelids, hypotelorism, large, low set ears, hypoplastic nasal bone, mid-face retrusion, prognathism, single central incisor or single nostril (as a minor form of holoprosencephaly)

Phenotypes involving eyes: Microphthalmia/anophthalmia, hypoplastic irides, coloboma of both optic discs, myopia, orbital hypoplasia and optic atrophy.

Phenotypes involving skeleton/ connective tissue:
Short stature, scoliosis, narrow, bell-shaped thorax, trapezoidal vertebrae, chondrodysplasia, abnormal clavicles, thin ribs, narrow iliac wings, micromelia, brachydactyly, enlarged epiphysis and metaphysis, angel shaped epiphysis of phalanges, short middle phalanges of hands and feet, muscular hypertrophy and hypoplastic nails.

Phenotypes involving genitourinary system: Normal internal and external genitalia with sex reversal in those with a normal male karyotype.