What are the symptoms of Jacobsen syndrome?
These include small and low-set ears, widely set eyes (hypertelorism ) with droopy eyelids (ptosis ), skin folds covering the inner corner of the eyes (epicanthal folds ), a broad nasal bridge , downturned corners of the mouth , a thin upper lip , and a small lower jaw .
What is Larsen syndrome?
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with dislocations of the hips, knees, or elbows.
What causes Jacobsen syndrome?
Jacobsen syndrome (JS) is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The condition was first described by Jacobsen in 1973 in a family with multiple members that inherited an unbalanced 11;21 translocation derived from a balanced translocation carrier parent [1].
What are the symptoms of Noonan syndrome?
Symptoms
- Eyes are wide-set and down-slanting with droopy lids.
- Ears are low-set and rotated backward.
- Nose is depressed at the top, with a wide base and bulbous tip.
- Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip.
- Facial features may appear coarse, but appear sharper with age.
What is Mowat Wilson syndrome?
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
What is Beckwith Wiedemann syndrome?
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood.
What is Pallister Hall Syndrome?
Collapse Section. Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly).
What is Aperts syndrome?
Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder that causes fusion of the skull, hands, and feet bones. It is characterized by deformities of the skull, face, teeth, and limbs. Apert syndrome occurs in one out of every 65,000 to 88,000 births.
What is Bardet Biedl syndrome?
Summary. Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. They often also suffer from intellectual impairments.
What is Freeman Sheldon Syndrome?
Freeman-Sheldon syndrome (also known as Freeman-Burian syndrome) is a condition that primarily affects muscles in the face and skull (craniofacial muscles) and can often affect joints in the hands and feet.
What causes Hemihyperplasia?
What causes hemihyperplasia? There is no single known cause of hemihyperplasia, but genetic factors can play a role. Hemihyperplasia is a congenital overgrowth disorder, meaning a child is born with it.
Is Proteus syndrome hereditary?
Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families.
What is Townes Brock syndrome?
Collapse Section. Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs.
What is McKusick Kaufman syndrome?
Description. Collapse Section. McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly ), heart defects, and genital abnormalities.
What is Goldenhar syndrome?
What Is Goldenhar SyndromeGoldenhar SyndromeGoldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus.https://en.wikipedia.org › wiki › Goldenhar_syndromeGoldenhar syndrome – Wikipedia? Some babies are born with a condition called Goldenhar syndrome. It can cause incomplete development of bones in the face, affecting the ears, nose, soft palate, lips, and jaw. Usually, this happens on one side of the face only.
What is Sensenbrenner syndrome?
Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies.
What is Smith Lemli Opitz syndrome?
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems.
What is Beckman Wiedemann syndrome?
What does hemihyperplasia look like?
One of your legs might be longer and thicker than your other leg, an entire side of your body might appear larger than the other, or other parts of your body will look asymmetrical. This condition can show up by itself or present as one symptom of certain genetic syndromes.
What does Proteus syndrome look like?
Symptoms of Proteus syndromeProteus syndromeProteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Tumors of skin and bone growths appear as they age typically in early childhood.https://en.wikipedia.org › wiki › Proteus_syndromeProteus syndrome – Wikipedia
raised, rough skin lesions that may have a bumpy, grooved appearance. a curved spine, also called scoliosis. fatty overgrowths, often on the stomach, arms, and legs. noncancerous tumors, often found on the ovaries, and membranes that cover the brain and spinal cord.
What is Meckel Gruber syndrome?
Meckel-Gruber syndromeMeckel-Gruber syndromeMeckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly).https://rarediseases.info.nih.gov › diseases › meckel-syndromeMeckel syndrome – About the Disease is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephaloceleencephaloceleA cephalocele is defined as a herniation of cranial contents through a defect in the skull. Cephaloceles are classified according to their contents and location.https://pubmed.ncbi.nlm.nih.gov › …Cephaloceles: classification, pathology, and management, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births.
How is Joubert syndrome diagnosed?
Joubert syndrome is diagnosed by the “molar tooth sign” on a brain MRI.
What is Wildervanck syndrome?
Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-FeilKlippel-FeilDefinition. Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.https://www.ninds.nih.gov › disorders › klippel-feil-syndromeKlippel-Feil Syndrome | National Institute of Neurological Disorders anomaly (in which the bones of the neck fuse together), Duane syndromeDuane syndromeDuane retraction syndrome (DRS), also known as Stilling–Turk–Duane syndrome, is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or downshoot.https://www.ncbi.nlm.nih.gov › pmc › articles › PMC5669793Duane retraction syndrome: causes, effects and management strategies (an eye movement disorder), and hearing loss. Wildervanck syndrome occurs primarily in females.
What are the symptoms of Joubert syndrome?
The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia).
How common is Waardenburg syndrome?
Waardenburg syndromeWaardenburg syndromeWaardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.https://en.wikipedia.org › wiki › Waardenburg_syndromeWaardenburg syndrome – Wikipedia affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.