Glossary for Long face
Medical terms related to Long face or mentioned in this section include:
- Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
- Behavioral symptoms: Symptoms of personal behavior.
- Blepharophimosis telecanthus microstomia: A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities.
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
- Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
- Chromosome 14 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 14 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing. The disorder is characterized by growth and mental retardation and characteristic facial features.
- Chromosome 14q deletion syndrome: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
- Chromosome 14q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
- Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
- Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- Chromosome 22q11 Deletion Spectrum: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
- Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.
- Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- Chromosome 4p15-16 deletion syndrome: A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
- Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures: A rare X-linked syndrome characterized mainly by mental retardation and seizures.
- Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
- Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
- Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
- Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
- Deletion of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
- Developmental problems: Physical or mental development difficulty.
- Dysmorphism -- cleft palate -- loose skin: A very rare syndrome characterized mainly by facial abnormalities, an opening in the roof of the mouth and loose skin.
- Face symptoms: Symptoms affecting the face
- Facial pain: Pain affecting the face
- Faciodigitogenital syndrome, recessive form: A rare syndrome characterized by facial, digital and genital abnormalities.
- Fara-Chlupackova syndrome: A rare syndrome characterized mainly by ear, face and neck abnormalities.
- Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
- Giacheti Syndrome: A rare syndrome characterized by learning disabilities, language problems and an unusual physical appearance involving tall stature and long hands and feet.
- Head symptoms: Symptoms affecting the head or brain
- Ichthyosis: Fish-like scaly dry skin areas
- Ichthyosis microphthalmos: A rare genetic disorder characterized by dry scaly skin and small eyes.
- Loffredo-Cennamo-Cecio syndrome: A very rare syndrome characterized mainly by scaly skin and small eyes.
- Marshall-Smith Syndrome: A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers.
- Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
- Mental retardation -- dysmorphism -- hypogonadism -- diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
- Mental retardation syndrome, Belgian type: A rare form of mental retardation reported in a Belgian family.
- Mental retardation, X-linked -- Dandy Walker malformation -- Basal ganglia disease -- Seizures:
- Mental retardation, X-linked -- hypotonia -- facial dysmorphism -- aggressive behavior: A rare X-linked disorder characterized by mental retardation, reduced muscle tone, aggressive behavior and unusual facial appearance. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
- Mental retardation, X-linked syndromic 14: A syndromic form of mental retardation which also involves variable features including poorly muscled build and facial anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect is located on chromosome Xq25-q26.
- Mental retardation, X-linked, 93: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the BRWD3 gene. Female carriers may also suffer from some mental deficiency.
- Mental retardation, X-linked, Siderius type: A rare inherited form of mental retardation involving a defect on chromosome Xp11.2.
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance: A very rare syndrome characterized by moderate to severe mental retardation, unusual facial appearance and an underdeveloped brain.
- Microbrachycephaly -- ptosis -- cleft lip: A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip.
- Mouth symptoms: Symptoms of the mouth or oral area.
- Muscle symptoms: Symptoms affecting the muscles of the body
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency: A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
- Nemaline myopathy, early onset type: A rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemalin rods in the muscle tissue which affects its function. The muscle weakness may be severe but is generally not a progressive condition. The main muscles affected are the limbs, neck and face
- Neuropathy: A condition which is characterized by a functional disturbance or pathological change in the peripheral nervous system
- Renpenning syndrome: A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies.
- Renpenning syndrome 1: A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies.
- Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
- Siderius type X-linked mental retardation syndrome: A rare inherited form of mental retardation involving a defect on chromosome Xp11.2. The symptoms are evident in males but females may be carriers.
- Simosa craniofacial syndrome: A rare disorder characterized by a range of facial anomalies including a high forehead, long face, flat face and a small mouth.
- Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
- Skull symptoms: Symptoms affecting the skull surrounding the brain.
- Snyder-Robinson syndrome: A rare syndrome characterized by mental retardation, reduced muscle tone, abnormal walk, weak bones and an asymmetrical face.
- Unusual facies, hypotonia, mental retardation and radioulnar synostosis: A very rare syndrome characterized by unusual facial appearance, reduced muscle tone, mental retardation and fused forearm bones.
- Unusual facies, short webbed neck, mental retardation, short stature: A rare syndrome characterized by an unusual facial appearance, short webbed neck, mental retardation and short stature
- Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
- Velofacioskeletal syndrome: A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities.
- WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
- Wilkie Taylor Scambler syndrome: A syndrome characterised by cataracts with microphthalmia and septal defect
- Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
- X-linked mental retardation -- hypotonia: A very rare inherited disorder characterized primarily by mental retardation. Initial symptoms of muscle weakness gives way to spasticity and contractures.
Conditions listing medical symptoms: Long face:
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