In-depth insights into various childhood syndromes and disorders.
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This rare disease is a genetic syndrome, the causes of which are still being researched. The main symptoms of the syndrome include alopecia (complete or partial), numbness of the face, sinuses and mouth (trigeminal anesthesia) and a brain abnormality (rhombencephalosynapsis). This syndrome is also known as: Cerebello-trigeminal-dermal Dysplasia Cerebello-Trigeminal-Dermal syndrome Glh Syndrome Gomez-lopez-hernandez Syndrome
This rare disease is a genetic condition of which very few cases have been diagnosed and reported. The main symptoms of the syndrome affect the limbs, head and face of an affected individual. Symptoms may vary widely between individuals.
This rare disease is a congenital syndrome that presents with a variety of symptoms depending on the individual affected. The main symptoms of the syndrome affect the skull and bones of the fingers and toes. In some individuals the neurological system may also be affected. There is still much to be known about this rare condition in terms of its syndromes and diagnosis. This syndrome is also known as: Acroosteolysis With Osteoporosis And Changes In Skull And Mandible Arthrodentoosteodysplasia Cheney Syndrome Serpentine Fibula-polycystic Kidney Syndrome; Sfpks
This rare disease is a genetic syndrome with a wide variety of symptoms. These symptoms include abnormalities to the skull and craniofacial regions, as well as ocular (eye) and dental abnormalities. The syndrome was first recorded in 1893, and there have been 150 reported cases of the syndrome, to date. This syndrome is also known as: Francois Dyscephalic Syndrome Francois syndrome HSS Oculo-mandibulo-dyscephaly
Also known as Hao-Fountain syndrome, this gene mutation disorder is a neurodevelopmental condition. Symptoms can vary according to the individual affected, not all symptoms present in all individuals, and symptoms may vary according to their severity. The syndrome presents with both physical and behavioral features. This syndrome is also known as: HAUSP Herpesvirus-associated Ubiquitin-specific Protease; Hausp TEF1 Ubiquitin-specific Protease, Herpesvirus-associated Vmw110-associated Protein, 135-kd
This rare disease is a genetic syndrome with two major, serious symptoms. The first is holoprosencephaly, which is when the brain does not develop properly. The second is ectrodactyly, which affects the hands and feet. There have been less than 20 cases reported of this rare syndrome to date, and most of these cases have been in males. This syndrome is also known as: Hartsfield (1984) – holoprosencephaly; ectrodactyly; cleft face Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip/palate
This rare craniofacial disease is a degenerative and progressive syndrome that affects the symmetry of the face and which then in turn causes related facial features and characteristics. This rare disease is progressive, meaning its symptoms and features of the syndrome worsen over time. There are 3 types of the syndrome, and it is believed to be a form of linear scleroderma, specifically ECDS. This syndrome is also known as: Hemifacial atrophy Hemifacial atrophy (Coup de sabre) Parry-romberg Syndrome Progressive hemifacial atrophy
Hemifacial (one side of the face) Microsomia is a rare disease, the defining feature of which is the underdevelopment of one half of the face. This underdevelopment may be mild or severe. It is known to vary from individual to individual. However in every individual diagnosed, an undeveloped lower jaw is a consistent feature. This syndrome is also known as: Facio-auriculo-vertebral syndrome Facioauriculovertebral Sequence Facioauriculovertebral syndrome Fav Sequence Goldenhar Syndrome Hemifacial microsomia HEMIFACIAL MICROSOMIA; HFM MYT1-related Oculo-auriculo-vertebral spectrum (OAVS) Oav Dysplasia OAVS Oculo-auriculo-vertebral syndrome Oculoauriculovertebral Dysplasia Oculoauriculovertebral Spectrum; Oavs Oculoauriculovertebral syndrome
Hennekam syndrome is a rare disease which affects the lymphatic system. The lymphatic system also involves the circulatory and immune systems. It is what transports immune and lymph cells around the body. Symptoms and life expectancy with the syndrome can vary widely between patients, including those within the same family. Some patients survive into adulthood. There are currently 50 cases of the syndrome reported worldwide. The syndrome is usually recognized at birth. This syndrome is also known as: Hennekam Lymphangiectasia-lymphedema Syndrome Hennekam syndrome Lymphatic Dysplasia, Generalized