Wolf-hirschhorn syndrome | About the Disease | GARD - Genetic …
Wolf-hirschhorn syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Síndrome de Wolf-Hirschhorn | Sobre la enfermedad | GARD
El síndrome de Wolf-Hirschhorn (WHS) es un trastorno genético que afecta muchas partes del cuerpo. Las señales y los síntomas incluyen una apariencia facial característica, retraso del crecimiento y del desarrollo, discapacidad intelectual, bajo tono muscular (hipotonía), y …
Coloboma of eyelid | About the Disease | GARD - Genetic and Rare ...
It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.
4p16.3 microduplication syndrome | About the Disease | GARD
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella ...
12q14 microdeletion syndrome | About the Disease | GARD
The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.
Merrf syndrome | About the Disease | GARD - Genetic and Rare …
Merrf syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Nijmegen breakage syndrome | About the Disease | GARD
A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.
PCWH syndrome | About the Disease | GARD - Genetic and Rare …
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with …
Craniofrontonasal syndrome | About the Disease | GARD
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.
Ectopic cushing syndrome | About the Disease | GARD - Genetic …
Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.