Pachygyria is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy.
Pacman dysplasia is a lethal autosomal recessive skeletal dysplasia. The dysplasia is present during fetal development.
Michelin tire baby syndrome, is a condition occurring in babies that is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life. They are reminiscent of those of Bibendum, the mascot of the tire manufacturer Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome, and other defects.
Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportionate dwarfism, in which individuals are extremely small for their age, even as a fetus. Most individuals with primordial dwarfism are not diagnosed until they are about 3–5 years of age.
Lucía Zárate was a Mexican entertainer with dwarfism who performed in sideshows. Zárate is the first person to have been identified with Majewski osteodysplastic primordial dwarfism type II. She was entered into the Guinness World Records as the "lightest recorded adult", weighing 4.7 pounds (2.1 kg) at the age of 17.
CHIME syndrome, also known as Zunich–Kaye syndrome or Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. The acronym CHIME is based on its main symptoms: colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either ear defects or epilepsy. It is a congenital syndrome with only a few cases studied and published.
Feingold syndrome is a rare autosomal dominant hereditary disorder. It is named after Murray Feingold, an American physician who first described the syndrome in 1975. Until 2003, at least 79 patients have been reported worldwide.
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.
U4atac minor spliceosomal RNA is a ncRNA which is an essential component of the minor U12-type spliceosome complex. The U12-type spliceosome is required for removal of the rarer class of eukaryotic introns.
Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene.
Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the PCNT gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM) to ensure proper centrosome and mitotic spindle formation, and thus, uninterrupted cell cycle progression. This gene is implicated in many diseases and disorders, including congenital disorders such as microcephalic osteodysplastic primordial dwarfism type II (MOPDII) and Seckel syndrome.
Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.
Gerodermia osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes.
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.
Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial features, and increased risk for Wilms' tumor. The syndrome is associated with high neonatal mortality.
RNA, U4atac small nuclear is a small nuclear RNA that in humans is encoded by the RNU4ATAC gene.
Gómez–López-Hernández syndrome (GLH) or cerebellotrigeminal-dermal dysplasia is a rare neurocutaneous (Phakomatosis) disorder affecting the trigeminal nerve and causing several other neural and physical abnormalities. Gómez–López-Hernández syndrome has been diagnosed in only 34 people. Cases of Gómez–López-Hernández syndrome may be under-reported as other diseases share the characteristics of cerebellar malformation shown in Gómez–López-Hernández syndrome. Gómez–López-Hernández syndrome was first characterized in 1979.
Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly with lissencephaly. Microlissencephaly is a heterogeneous disorder, i.e. it has many different causes and a variable clinical course. Microlissencephaly is a malformation of cortical development (MCD) that occurs due to failure of neuronal migration between the third and fifth month of gestation as well as stem cell population abnormalities. Numerous genes have been found to be associated with microlissencephaly, however, the pathophysiology is still not completely understood.
Temple–Baraitser syndrome (TBS) is a very rare autosomal dominant genetic disorder, characterised by intellectual disability, epilepsy, small or absent nail of the thumbs and great toes, and distinct craniofacial features.
Alazami syndrome is a rare autosomal recessive genetic disorder characterized by short stature, severe mental retardation, speech delay, skeletal deformities, intellectual disability, and distinctive facial features. Facial features include underdevelopment of the cheekbones, deep-set eyes, broad nose and an enlargement at the corners of the mouth (macrostomia). Skeletal deformities include scoliosis and mild epiphyseal changes in the first bones of the fingers, but no severe hip dislocation. It was first described by Alazami et al in 2012. The syndrome was presented by a Saudi Arabian family with primordial dwarfism syndrome with LARP7 gene variations. Some affected patients show the lack of voluntary coordination of muscle movements (Ataxia), manifested as a clumsy walking pattern, with frequent trips or falls.
