Jarcho-Levin syndrome

December 31, 2014

Overview

A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.

Symptoms

* Short trunk dwarfism * Prominent back of skull * Broad forehead * Wide nasal bridge * Anteverted nostrils * Up-slanted space between eyelids * Short thorax * Crab-like rib cage * Vertebral defects * Flared ribs * Posterior fusion of ribs * Absence of ribs * Short neck * Low hairline at abck of neck * Pectus carinatum * Increased anteroposterior chest diameter * Lordosis * Kyphoscoliosis * Protruding abdomen * Small chest cavity

Causes

* Ankylosing spondylarthritis * Axial mesodermal dysplasia spectrum * Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex * Borrone-Di Rocco-Crovato syndrome * Cayler syndrome * Cerebrocostomandibular Syndrome * Chromosome 19q, partial duplication * Chromosome 8p mosaic tetrasomy * Chromosomes 1 and 2, monosomy 2q duplication 1p * Cloacal exstrophy * Edwards Syndrome * Faye-Petersen-Ward-Carey syndrome * Harper dwarfism * Metaphyseal chondrodysplasia, recessive type * Multiple endocrine abnormalities - adenylyl cyclase dysfunction * Multiple synostosis syndrome * Noonan syndrome 3 * Orofaciodigital syndrome, Gabrielli type * Radio renal syndrome * Reardon-Hall-Slaney syndrome * Rhizomelic dysplasia Patterson Lowry type * Robinow syndrome, autosomal recessive * Spondylocostal dysostosis, autosomal recessive * Spondyloepimetaphyseal dysplasia, X-linked * VACTERL association * VATER association * Vater-like syndrome, with pulmonary hypertension, abnormal ears and growth deficiency * Waaler Aarskog syndrome

Prognosis

Babies born with Jarcho-Levin may be very healthy and grow up to lead normal lives However, many individuals with Jarcho-Levin suffer from problems of respiratory insufficiency secondary to volume-restricted thoraces. These individuals will often develop pulmonary complications and die in infancy or early childhood. The disparity in outcomes of those with the syndrome is related to the fact that Jarcho-Levin actually encompasses two or more distinct syndromes, each with its own range of prognoses. The syndromes currently recognized as subtypes of Jarcho-Levin are termed Spondylothoracic Dysplasia and Spondylocostal Dysostosis.