A rare disorder characterized by spasticity, seizures, absent abdominal reflexes, small head and mental retardation.Microcephaly, microphthalmia, cataract, mental deficiency, spasticity hypogenitalism, and growth retardation are the principal clinical features.
Wiedemann et al. (1985) described a rare syndrome characterised by microcephaly, psychomotor delay, short stature, short fingers and toes with stubby broad thumbs and halluces. Unilateral undescended testis, inguinal hernias, scrotal hypoplasia, and micropenis were also features. They described two males, first cousins, whose mothers and maternal grandfather had short broad thumbs and halluces. We report a male with identical features whose parents were normal. This is only the second report of this syndrome. Autosomal or X-linked dominant inheritance is most likely.
Microcephaly - microphthalmos - blindness: A very rare syndrome characterized mainly by a small head, small eyes and blindness.
Microcephaly nonsyndromal:
Microcephaly - pontocerebellar hypoplasia - dyskinesia: A rare, recessively inherited disorder characterized by an abnormally small brain and brainstem which manifests as a small head and mental retardation. The brain progressively degenerates.
Microcephaly - seizures - mental retardation - heart disorders: A very rare syndrome characterized mainly by a small head, seizures, mental retardation and heart disorders.
Microcephaly - sparse hair - mental retardation - seizures: A very rare disorder characterized by an abnormally small head, sparse hair, mental retardation and seizures.
Microcephaly with chorioretinopathy, autosomal dominant form: A very rare, dominantly inherited disorder characterized by an abnormally small head and a noninflammatory disease of the choroids and retina of the eye.
Microcephaly with normal intelligence, immunodeficiency: A very rare disorder characterized by immunodeficiency as well as an abnormally small head that is not associated with any mental deficiencies.
Microcephaly with spastic quadriplegia: A very rare disorder characterized by an abnormally small head and quadriplegia.
Microcephaly, corpus callosum dysgenesis and cleft lip-palate: A rare disorder characterized by a small head, abnormal brain development and a cleft lip and palate.
A condition which is characterized by microcephaly, hiatal hernia and nephrotic syndrome.
Microcephaly, holoprosencephaly, and intrauterine growth retardation: A rare syndrome involving a small head, retarded fetal growth and holoprosencephaly (brain malformation where the two halves of the brain fail to separate).
Microcephaly, primary autosomal recessive: A rare, recessively inherited condition characterized by a small head. The 6 forms of this condition differ with respect to the origin of the genetic defect involved. The size of the brain often reduces in size with age with many cases resulting in death before the age of 30 years.
Microcoria, congenital: A very rare disorder where the muscles that dilate the pupils don't develop normally or are completely absent and the pupils have little or no ability to dilate.
Microcornea - corectopia - macular hypoplasia: A very rare eye disorder involving small corneas and other anomalies.
Microcornea - glaucoma - absent frontal sinuses: A very rare syndrome characterized mainly by small corneas, glaucoma and missing sinuses.
Microdontia - hypodontia - short stature: A rare disorder characterized by small teeth, missing teeth and short stature, strabismus and borderline mental deficiency.
Microcephaly is a neurodevelopmental disorder. It serves as an important neurological indication or warning sign, but no uniformity exists in its definition. It is usually defined as a head circumference (HC) more than two standard deviations below the mean for age and sex. Some academics advocate defining it as head circumference more than three standard deviations below the mean for the age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. A homozygous mutation in one of the microcephalin genes causes primary microcephaly.
In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.
Congenital microgastria limb reduction defect: A rare syndrome characterized by micrograstia and limb reduction as well as other abnormalities.
Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound developmental delay. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that MHAC is possibly inherited in an autosomal recessive manner.
Micromelic dwarfism, Fryns type: A very rare syndrome characterized mainly by short-limbed dwarfism.
Borochowitz et al. (1991) described 2 pairs of sibs, offspring of consanguineous couples from an Arabic-Moslem kindred, who presented at birth with severe short-limb dwarfism and distinct facial and radiologic appearance similar to that of patients 4 and 5 of Maroteaux et al. (1989) in their report of an apparently autosomal dominant congenital bone disorder that they called omodysplasia (164745). Borochowitz et al. [1991a] reported four children from a consanguineous Arab family from Israel with this new bone dysplasia and pointed out two other cases from the literature. Amale child, product of consanguineous Baluchi parents, was diagnosed as having this rare bone dysplasia. A sib with similar features died at 15 days of age.
Microphthalmia (or microphthalmos) means small eyes. In mammals the failure of expression of a transcription factor, MITF (microphthalmia-associated transcription factor), in the pigmented retina prevents this structure from fully differentiating. This in turn causes a malformation of the choroid fissure of the eye, resulting in the drainage of vitreous humor fluid. Without this fluid, the eye fails to enlarge, thus the name microphthalmia.
Microphthalmia and mental deficiency: A very rare syndrome characterized mainly by small eyes and mental deficiency.
Microphthalmia associated with colobomatous cyst: A rare eye disorder characterized by small eyes and a colobomatous cyst.
A very rare disorder characterized by the association of small eyes, mental retardation and permanently flexed fingers.
Microphthalmia - cataract: A very rare syndrome characterized mainly by small eyes and cataracts.
Abnormally small eyes.
Microphthalmia and mental deficiency: A very rare syndrome characterized mainly by small eyes and mental deficiency.