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]

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]

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]

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]

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]

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]

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 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]

[…] 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 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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]