Syndromes with craniofacial abnormalities

chromosomal condition

adrenal gland overactivity caused by a tumor of the pituitary gland or by medication

neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression

group of conditions that can occur in a person whose mother drank alcohol during pregnancy

human medical condition

T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production

congenital disorder of nervous system

genetic disease

rare disease

congenital disorder of nervous system

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

autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life

rare disease

syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch

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

a congenital condition with micrognathia and glossoptosis

genetic disorder affecting the cerebellum

rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea

Human disease

human disease

genetic disorder that results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase

human disease

syndrome characterized by craniofacial dysmorphology, cardiac defects, mild intellectual disability, and high birth weight followed by a failure to thrive and developmental delays

genetic disorder

Human disease

genetic disorder that is X-linked dominant

Human disease

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

alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21

Human disease

medical condition

acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull

rare genetic disorder

a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity

rare genetic condition in humans

autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene

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

syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities

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

disease

rare congenital disorder

human disease

human disease

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

medical condition

Human disease

syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome

medical condition

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism

congenital disorder that affects primarily bone development.

medical condition

disorder of lens

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia

Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.

3MC congenital syndrome associated with the COLEC10 gene on chromosome 8q24