Rare genetic syndromes

genetic disorder of the connective tissue

rare genetic disorder

human medical condition

human disease

congenital disorder of nervous system

form of hypogonadotropic hypogonadism which is also accompanied by a total lack or partial loss in the sense of smell. The condition affects people with XX or XY chromosomes and causes atypical puberty and infertility

genetic disease

monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face

rare genetic disorder caused by mutations in the gene ALMS1

Human disease

Human disease

multiple congenital anomaly caused by deletion on chromosome 11, often featuring intellectual disabilities, dysmorphic features, delayed development and heart defects.

lysosomal storage disease

Human disease

Human disease

rare genetic disorder

acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly

genetic disorder that is X-linked dominant

Human disease

metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair

inherited metabolic disease

medical condition

autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities

hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in mutation in the FOXP3 gene on chromosome Xp11

lymphedema commonly located in legs, caused by congenital abnormalities in the lymphatic system

syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs

rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia

human disease

developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations.

disease

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer

rare chromosomal disorder

rare genetic disorder

synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone

syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation

human disease

congenital disorder that affects primarily bone development.

medical condition

CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi

connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta

Human disease

a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.

autosomal recessive disease characterized by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course

Autosomal dominant genetic condition

disorder of lens

congenital disorder of digestive system

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy

syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1

genetic disorder

Human disease

rare genetic disorder

medical condition

a rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

human disease