Presentation
Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. [ncbi.nlm.nih.gov]
Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Epidemiology The syndrome has been described in eight female patients. [malacards.org]
Hyperactive and attention deficits are present in 61% of these individuals, which usually regress after 12-14 years of age. In individuals with subnormal intelligence, hyperactive and attention deficits are present in 84% cases [4-6]. [peertechz.com]
OMIM 119650 Wallis Zieff Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as rhizomelic short stature and lateral clavicular defects.[1] It is also known as Cleidorhizomelic Syndrome.[2] Clinical presentation [enacademic.com]
Entire Body System
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Short Finger
fingers or toes 0001156 Bulbous nose 0000414 Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Depressed nasal bridge Low nasal bridge [rarediseases.info.nih.gov]
Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. [en.wikipedia.org]
fingers....read more » Chromosome 14q, terminal duplication A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation... [wikidoc.org]
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Developmental Delay
delay 0001263 Kyphoscoliosis 0002751 Psychosis 0000709 X-linked dominant inheritance 0001423 Showing of 38 Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease [rarediseases.info.nih.gov]
delay....read more » Cutis Laxa with Growth and Developmental Delay A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay....read more » Cutis Laxa with or without Congenital Disorder of Glycosylation [wikidoc.org]
delay and mental retardation. [en.wikipedia.org]
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Physician
William Osler, Baronet(1849-1919) Canadian physician and FrederickParkes Weber (1863-1962) English physician 注 OslerはJohns Hopkins Hospitalの創設者の一人、 Weber は Weber-Christian disease と同一人 Rett レット Rett's syndrome レット症候群 AndreasRett (1924-1997) Austrian [jams.med.or.jp]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
Respiratoric
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Saddle Nose
nose Vertebral column spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · Sacralization Thoracic skeleton ribs: Cervical · Bifid sternum: Pectus excavatum · Pectus carinatum M: JNT anat(h/c, u, t, l)/phys [enacademic.com]
Jaw & Teeth
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High Arched Palate
There was high arched palate (Figure 4). Figure 4: Showing palatally placed upper lateral incisors, labially placed canines, crowding in maxillary and mandibular anterior region and high arched palate. [peertechz.com]
Musculoskeletal
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Brachydactyly
Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. [ncbi.nlm.nih.gov]
Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Epidemiology The syndrome has been described in eight female patients. [malacards.org]
(Dorland, 27th ed) a type of spinal curvature Other names Scolioses Substance CAS Registry & name Categories Source Prata Lib ral Gon ºalves syndrome 0 *Scoliosis *Synostosis *Spina Bifida Occulta *Brachydactyly. [reference.md]
[…] dislocation foot deformity: varus (Club foot / Pigeon toe) · valgus (Flat feet) · Pes cavus · Rocker bottom foot · Hammer toe Either / both dactyly / digit: Polydactyly / Syndactyly (webbed toes) · Arachnodactyly · Cenani Lenz syndactylism · Ectrodactyly · Brachydactyly [enacademic.com]
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Fracture
らを実験台にして死亡 Celsus ケルスス Celsus kerion ケルスス禿瘡 Cerenkov チェレンコフ Cerenkov radiation チェレンコフ放射 Chaddock チャドック Chaddock reflex チャドック反射 Chagas シャーガス Chagas' disease シャーガス病 CarlosJustiniano Ribeiro Chagas (1879 - 1934) a Brazilian physician Chance チャンス Chance fracture [jams.med.or.jp]
Ears
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Low Set Ears
ears Low set ears Lowset ears [ more ] 0000369 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Malar flattening Zygomatic flattening 0000272 Obesity Having too much body fat 0001513 Prominent nose Big nose Disproportionately [rarediseases.info.nih.gov]
Aarskog–Scott syndrome / Aarskog Syndrome Other names Faciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome[1] Specialty Medical genetics Symptoms Broad hands and feet, wide set eyes, low set ears, drooping [en.wikipedia.org]
set ears with fleshy earlobes and incomplete outfolding of upper helices [4,5]. [peertechz.com]
Eyes
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Strabismus
[…] motor development Delayed motor skills 0002194 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Hypoplasia of dental enamel Underdeveloped teeth enamel 0006297 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Strabismus [rarediseases.info.nih.gov]
Some ocular features are also observed in such patients such as strabismus, nystagmus, amblyopia, bilateral blepharoptosis, astigmatism, hyperopia, anisometropia, corneal enlargement, deficient ocular elevation, blue sclera, posterior embryotoxon, ophthalmoplegia [peertechz.com]
Skin
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Photosensitive Skin Rash
skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Depressed nasal bridge Low nasal bridge Low nasal root Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened [rarediseases.info.nih.gov]
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Photosensitivity
Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Depressed nasal bridge Low nasal bridge Low nasal root Depressed bridge of nose Flat bridge of nose Flat nasal [rarediseases.info.nih.gov]
Psychiatrical
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Psychomotor Retardation
Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. [ncbi.nlm.nih.gov]
Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Epidemiology The syndrome has been described in eight female patients. [malacards.org]
M.D. [1] Causes 3C syndrome Aarskog Syndrome Achondrogenesis type 2 Acroosteolysis dominant type Ampola syndrome Aniridia -- renal agenesis -- psychomotor retardation Arthritis -- short stature -- deafness Atkin-Flatiz syndrome Aural atresia -- multiple [wikidoc.org]
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Behavior Disorder
disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ] 0000708 Brachydactyly Short fingers or toes 0001156 Bulbous nose 0000414 [rarediseases.info.nih.gov]
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Abnormal Behavior
Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ] 0000708 Brachydactyly Short fingers or [rarediseases.info.nih.gov]
Face, Head & Neck
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Broad Nasal Bridge
nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]
In our case, there was ocular hypertelorism, ptosis, slight antimongoloid obliquity of palpabral fissure, small and short nose, broad nasal bridge, long philtrum, slight crease below lower lip, puffy enlarged lips and fleshy earlobes. [peertechz.com]
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Bulbous Nose
nose 0000414 Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Depressed nasal bridge Low nasal bridge Low nasal root Depressed bridge [rarediseases.info.nih.gov]
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High Forehead
forehead 0000348 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental-retardation Mental retardation, [rarediseases.info.nih.gov]
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Low Nasal Root
nasal root Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge [ more ] 0005280 Hemivertebrae Missing part of vertebrae 0002937 High forehead 0000348 High palate Elevated palate Increased palatal height [rarediseases.info.nih.gov]
Breast
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Widely Spaced Nipples
nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through HPO Abnormality of the cerebral white matter 0002500 Autosomal dominant inheritance 0000006 Global developmental delay [rarediseases.info.nih.gov]
Neurologic
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Behavior Problem
problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ] 0000708 Brachydactyly Short fingers or toes 0001156 Bulbous nose 0000414 Cutaneous photosensitivity Photosensitive [rarediseases.info.nih.gov]
Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.[3] Genetics[edit] X-linked recessive inheritance. [en.wikipedia.org]
Treatment
There are numerous treatments that exist and increase the quality of life. [peertechz.com]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
[edit] Similar to all genetic diseases Aarskog–Scott syndrome cannot be cured, although numerous treatments exist to increase the quality of life.[6] Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct [en.wikipedia.org]
It is essential that they are offered treatment in a non-judgemental avenue that includes aspects to assist their venereal reintegration. [chesapeakehumane.org]
Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications. European Journal of Endocrinology. 125-136. [uib.no]
Prognosis
Trials of growth hormone have been effective to treat short stature in this disorder.[7] Prognosis[edit] Some people may have some mental slowness, but children with this condition often have good social skills. [en.wikipedia.org]
Epidemiology
Epidemiology The syndrome has been described in eight female patients. Genetic counseling The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant. [malacards.org]
Pathophysiology
The cause of Aarskog-Scott syndrome in other affected individuals is unknown.[3] Pathophysiology[edit] The Aarskog–Scott syndrome is due to mutation in the FGD1 gene. [en.wikipedia.org]
Prevention
Kaplan-Plauchu-Fitch syndrome A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities....read more » Lathosterolosis A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents [wikidoc.org]