fingers or toes 0001156 Camptodactyly of finger Permanent flexion of the finger 0100490 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 [rarediseases.info.nih.gov]

[…] thorax Anteverted ears Psychomotor deterioration Abnormal corpus callosum morphology Broad philtrum Short attention span Narrow nose Delayed gross motor development Short toe Short middle phalanx of finger Finger clinodactyly Narrow palpebral fissure Short [mendelian.co]

Rembrandt [videos] Rembrandt Harmenszoon van Rijn was a Dutch draughtsman, painter and printmaker. [wikivisually.com]

Showing of 24 30%-79% of people have these symptoms Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Aplasia/Hypoplasia of the eyebrow Absence of eyebrow Lack of eyebrow Missing eyebrow [rarediseases.info.nih.gov]

Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.Visit the Orphanet disease page for more resources. [malacards.org]

Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. [rarediseases.info.nih.gov]

Diseases Hyperbilirubinemia type 2 Pyridoxine deficit Tracheophageal fistula hypospadias Brachydactyly a Brachydactyly s Contact dermatitis, irritant Diabetic embryopathy Diabetes insipidus Oculomaxillofacial dysplasia with oblique facial clefts Dyssegmental [sarcomacancer.org]

This publication is cited by 3 and mapped to 6 other entries. 8 "Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels." [uniprot.org]

Brachydactyly A1, C (BDA1C) [MIM:615072] (GDF5,NOG) Brachydactyly B2 (BDB2) [MIM:611377] (GDF5,NOG) Brachydactyly C (BDC) [MIM:113100] (GDF5,NOG) Breast cancer Breast cancer (BC) [MIM:114480] (PIK3R1,PIK3CA) Breast-ovarian cancer, familial, 3 (BROVCA3 [dsysmap.irbbarcelona.org]

[…] body height Small stature [ more ] 0004322 Sparse or absent eyelashes 0200102 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Upslanted palpebral fissure Upward slanting of the opening between the eyelids 0000582 Wide nasal bridge [rarediseases.info.nih.gov]

Vigorous use of water jets should be avoided with fractures, known blood clots, bleeding disorders, severe osteoporosis, open wounds, or during pregnancy. [naturesfoodpatch.com]

[…] floating-harbor, florid, flotch, flutter, flynn, focal, foetal, foeto-foetal, foix, folate, folinic, follicular, follicularis, following, fontaine, foot, foramina, forelock, form, formiminoglutamic, forms, forney-robinson-pascoe, foveal, fowler-christmas-chapple, fractures [rapsodyonline.eurordis.org]

head size, the ears may be low-set or rotated backward ( /-microtia). [panelapp.genomicsengland.co.uk]

Affiliated tissues include bone and eye, and related phenotypes are corneal opacity and abnormality of the dentition [malacards.org]

opacity 0007957 Facial cleft Cleft of the face 0002006 Median cleft lip Central cleft upper lip 0000161 Short stature Decreased body height Small stature [ more ] 0004322 Sparse or absent eyelashes 0200102 Underdeveloped nasal alae Underdeveloped tissue [rarediseases.info.nih.gov]

opacity Retinal degeneration Respiratory tract infection Retinopathy Joint stiffness Skeletal dysplasia Kyphosis Abnormal pyramidal sign Hepatosplenomegaly Umbilical hernia Coarse facial features Glaucoma Recurrent respiratory infections Hernia Inguinal [mendelian.co]

eye Absent/underdeveloped eye [ more ] 0008056 Brachydactyly Short fingers or toes 0001156 Camptodactyly of finger Permanent flexion of the finger 0100490 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive [rarediseases.info.nih.gov]

eyes dis-order), mandibular hypoplasia, dyscephaly (usually brachycephaly), bird-like facies (parrot nose), proportionate nanism, and bilateral congenital cataracts. [14824] References: Tartaglia M. et al "Jackson-Weiss syndrome: identification of two [wellnessadvocate.com]

eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. [malacards.org]

eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip /palate, and oblique facial clefts. [rarediseases.info.nih.gov]

She had short stature, mental retarda- tion, down-slanted and S-shaped palpebral fissures, sparse eyebrows, with abnormal lateral orientation, irregular contour of the upper lid, absent lower eye- lashes, bilateral anophthalmia, broad and abnormally modelled [docslide.net]

[…] or absent eyelashes 0200102 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Upslanted palpebral fissure Upward slanting of the opening between the eyelids 0000582 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened [rarediseases.info.nih.gov]

He presented short stature, asymmetric orbits, down-slanted and S-shaped palpebral fissures, sparse eyelashes mainly on the lower lid, irregu- lar contour of upper and lower lids, ectropion, a/ hypoplasia of lacrimal puncta bilaterally, corneal leukoma [docslide.net]

G.I. comforting a grieving infantryman Crew of an M-24 tank along the Nakdong River front, August 1950 Combat in the streets of Seoul Rolls-Royce Motor Cars [videos] Rolls-Royce Motor Cars Limited is a British luxury automobile maker. [wikivisually.com]

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]

Facial features include prominent forehead, flat philtrum, hypertelorism, telecanthus, broad nasal bridge, and anteverted nares. read more [ctgt.net]

nasal bridge, high arch/cleft palate.[4] There is no reported sex predilection.[5] Initially it was thought to be an autosomal dominant condition but subsequent reports of consanguinity as well as affected ACS sibs born to unaffected parents, have suggested [jemds.com]

nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and [mendelian.co]

cleft lip Central cleft upper lip 0000161 Short stature Decreased body height Small stature [ more ] 0004322 Sparse or absent eyelashes 0200102 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Upslanted palpebral fissure Upward [rarediseases.info.nih.gov]

At birth presence of two or more of the following symptoms is considered positive for FND: A skin-covered gap in the bones of the forehead (anterior cranium bifidum occultum); hypertelorism; median cleft lip; median cleft nose; and/or any abnormal development [ruralneuropractice.com]

impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Coloboma Notched pupil 0000589 Deep palmar crease Deep palm line 0006191 Micrognathia Little lower [rarediseases.info.nih.gov]

Fragile X Syndrome August 28, 2018 by Peter Ciszewski Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. [checkrare.com]

In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016 ). [mendelian.co]