MIDAS Syndrome

MIDAS Syndrome Facts:

• Microphthalmia–dermal aplasia–sclerocornea syndrome.
• Also known as Gazali-Temple syndrome.
• Condition characterized by linear skin lesions of dermal aplasia.
• It can be associated with the HCCS gene.
• Inter- and intrafamilial variability is considerable.
• Characterized by unilateral or bilateral microophthalmia &/or anophthalmia.
• Linear skin defects, usually involving the face & neck.
• The dermal aplasia is present at birth & heals with age, but leaves mild residual scarring.

MIDAS Syndrome Other Findings:

• Heart defects - hypertrophic cardiomyopathy, oncocytic cardiomyopathy, & arrhythmias)
• Central nervous system involvement - structural anomalies & infantile seizures.
• Developmental delay
• Short stature
• Diaphragmatic hernia
• Nail dystrophy
• Preauricular pits & hearing loss
• Genitourinary malformations

Tags: MIDAS Syndrome
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Griscelli Syndrome

Griscelli Syndrome:

• The syndrome resembles Chediak-Higashi syndrome.
• Usually causes death in early childhood.
• Autosomal recessive disorder.
• Griscelli syndrome is a disorder of melanosome transport -with 3 subtypes.
• * Griscelli syndrome type 1 (Elejalde syndrome) - gene MYO5A
• * Griscelli syndrome type 2 (Partial albinism with immunodeficiency) - gene RAB27A
• * Griscelli syndrome type 3 - gene MLPH

Clinical Features:

• Dermatology - Silver-grey hair, pale skin, focal depigmentation.
• Gastrointestinal - Hepatosplenomegaly
• Immunology - Multiple immunodeficiencies, pyogenic infections
• Neurology - Demyelinating CNS disease

Tags: Depigmentation - Griscelli Syndrome - Hepatosplenomegaly - Immunodeficiency
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Allezandrini Syndrome

Allezandrini Syndrome General Facts:

• Uncommon vitiligo variant.
• Unclear aetiology.

Allezandrini Syndrome Clinical Features:

• Retinal degeneration, unilateral
• Facial vitiligo, ipsilateral
• Poliosis - eyebrows, eyelashes
• Deafness

Tags: Deafness - Poliosis - Retinal Degeneration - Vitiligo
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Cerebro-costo-mandibular Syndrome (CCM Syndrome or CCMS)

Cerebro-costo-mandibular Syndrome General Facts:

• Also known as CCM syndrome, CCMS, or rib gap syndrome.
• Cerebrocostomandibular syndrome is very rare condition.
• The genetic mechanism is uncertain.

Clinical Features:

• 11 pairs of ribs are usually present. The ribs characteristically have abnormal costovertebral articulations & posterior ossification gaps which resemble fractures.
• The posterior ossification gaps will ossify later in life.
• Neonatal respiratory distress is common due to flail chest & airway abnormalities.

Clinical Problems (Listed):

• HEENT - cleft palate, conductive hearing loss, glossoptosis, high arched palate, micrognathia
• Cardiac - congenital heart disease
• Respiratory - respiratory distress, tracheal abnormalities
• Skeletal - elbow hypoplasia, kyphosis, rib dysplasia, scoliosis, slow postnatal growth, vertebral fusion
• Neurological - microcephaly
• Psychiatric - mental retardation (+)
• Genitourinary - ectopic kidney
• Skin - excessive skin

Differential Diagnosis:

• Multiple fractures

Prognosis:

• Approximately 35% of babies with CCMS will die within one year.
• Mortality rate of as high as 56% - especially from early respiratory problems.
• Cerebral involvement is mostly related to hypoxia, so early recognition & intervention is very important.
• Development progresses well once the initial respiratory problems are survived. [1]
• Longterm life expectancy is thus related to early interventions & managing major developmental anomalies.

Management:

• Includes intensive care for improving neonatal respiratory function
• Prevention of feeding difficulties.
• Operative interventions - musculoskeletal, palatal or hearing problems.

References:

• [1] - Van den Ende JJ, Schrander-Stumpel C, Rupprecht E, Meinecke P, Maroteaux P, de Die-Smulders C, et al. The cerebro-costo-mandibular syndrome: seven patients and review of the literature. Clin Dysmorphol 1998;7:87-95.
• Hosalkar HS, Shaw BA, Ceppi CL, Ng BC. The cerebro-costo-mandibular syndrome: 9-year follow-up of a case. J Postgrad Med 2000;46:268
• Cerebrocostomandibular Syndrome (http://www.rare-disorders.com/cerebrocostomandibular.html)

Tags: Cerebro-costo-mandibular Syndrome - Microcephaly - Rib Dysplasia
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Lowe's Syndrome (Oculocerebrorenal Syndrome)

Lowe's Syndrome Aetiology:

• This syndrome is a "genetic" condition.
• It is caused by a mutation in the OCRL1 gene.
• This gene codes for the essential enzyme PIP2-5-phosphatase is not produced in Lowe's Syndrome.

Lowe's Syndrome Diagnosis:

• Diagnosis is still largely clinical.
• Based on the presence of cataracts at birth in both eyes, plus a kidney disorder & a positive test for the enzyme deficiency.

Lowe's Syndrome - Renal Complications:

• Aminoaciduria
• Fanconi-type renal tubular dysfunction
• Phosphaturia
• Proteinuria
• Progressive renal failure
• Proximal renal tubular acidosis

Lowe's Syndrome - Non Renal Complications:

• Metabolic - CPK elevation
• Muscle - Areflexia, Hypotonia
• Neurological - Seizures
• Ophthalmic - Congenital cataracts, Glaucoma
• Psychiatric - Intellectual impairment, Mental retardation
• Skeletal - Vitamin D Resistant Rickets

Picture: Young boy with Lowe's syndrome.

Image thanks to Robert Thomson on flickr.com (creative commons).

Tags: Areflexia - Cataract - Hypotonia - Lowe's Syndrome - Mental Retardation - Oculocerebrorenal Syndrome - PIP2-5-phosphatase - Seizures

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Medicalchemy Clinical Syndromes Blog

This Medicalchemy (TM) blog will be about Clinical Syndromes.

Tags: Blog - Syndrome
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