In-depth insights into various childhood syndromes and disorders.
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This rare disease is a congenital brain condition that presents with multiple birth defects (symptoms present at birth) and developmental delay. The syndrome is characterized by a very large head (megalocephaly) and brain. This growth is especially marked during the first two years of an affected individual’s life.
Meier-Gorlin syndrome is a rare genetic disease. Affected individuals often have small ears, a short stature and absent or very small kneecaps. Unique facial features are also present with the syndrome.
This rare disease is a genetic condition affecting mainly the bones. The main symptoms affect the skeletal and face. Due to how the syndrome is inherited (X-linked dominant) the syndrome mainly affects females with affected males rarely surviving birth or infancy, so severely are they affected by the condition. To data there have been 70 cases of this syndrome reported worldwide. This syndrome is also known as: Melnick-needles Osteodysplasty MNS Osteodysplasty Of Melnick And Needles
Menkes syndrome is a genetic disorder that affects how well the body absorbs copper. It occurs in 1 in 100,000 live births, with the majority of individuals with the syndrome being born prematurely. Due to the way in which it is inherited it occurs mainly in males. Syndrome Synonyms: Copper Transport Disease Kinky Hair Disease Kinky hair syndrome Menkes Syndrome Mk; Mnk MNK Steely Hair Disease
It is a progressive and rare genetic syndrome which mainly affects the development of cartilage and bone in the body. As a progressive disorder symptoms worsen with age. There are just 20 cases of the syndrome reported worldwide to data. This syndrome is also known as: Metaphyseal Chondrodysplasia, Murk Jansen Type
It is a rare genetic syndrome defined by specific features. These include restricted growth, a very small head, abnormal bone development and growth, unique facial features and brain abnormalities. Life expectancy with the syndrome is low, with most affected individuals not surviving their first year of life. This syndrome is also known as: Brachymelic Primordial Dwarfism Cephalo-skeletal dysplasia Low-birth-weight Dwarfism With Skeletal Dysplasia Microcephalic osteodysplastic primordial dwarfism type I Mopd I; Mopd Osteodysplastic Primordial Dwarfism, Type I Taybi-linder Syndrome; Tals
It is a rare genetic syndrome. Dwarfism, an exceptionally short stature, skeletal abnormalities and a small head characterize the syndrome. These symptoms begin before birth. This syndrome is also known as: Majewski osteodysplastic primordial dwarfism Microcephalic osteodysplastic primordial dwarfism type II Mopd Ii Osteodysplastic Primordial Dwarfism, Type II
Also often referred to as MPCH it is a rare genetic syndrome that presents with a very small head and a very small brain. There are around 200 families currently recorded as diagnosed with the syndrome. The syndrome has a much higher prevalence in some regions of the world, specifically North Pakistan. This syndrome is also known as: MCPH1; MCPH2; MCPH3; MCPH5; MCPH6; MCPH7
MISSLA is a rare disease which presents with intrauterine growth retardation (this affects the growth of the fetus before it is born), a small head, short stature and abnormalities affecting the limbs in particular.