A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.
[merckmanuals.com]
transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon
[mendelian.co]
transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12
[malacards.org]
transverse palmar crease Radial deviation of finger Broad hallux Cleft upper lip Gastrointestinal dysmotility Postnatal macrocephaly Microtia, first degree Branchial fistula
[mendelian.co]
Clinical characteristics of SWS include bowing of the long bones (bent-bone dysplasia), hypertelorism, micrognathia, single transverse palmar crease, trismus, camptodactyly
[ai-online.info]
transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing
[rarediseases.info.nih.gov]
[…] palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone Short skankbone [ more ] 0005736 Single
[rarediseases.info.nih.gov]
transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global
[rarediseases.info.nih.gov]
Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may
[news-medical.net]
[…] planus Flat feet Flat foot [ more ] 0001763 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short neck Decreased length of neck 0000470 Single
[rarediseases.info.nih.gov]
transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629
[rarediseases.info.nih.gov]
transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma
[mendelian.co]
[…] foot turns inward 0001840 Narrow palm 0004283 Optic disc pallor 0000543 Ovoid vertebral bodies 0003300 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Single
[rarediseases.info.nih.gov]
transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight
[rarediseases.info.nih.gov]
[…] nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Proportionate short stature 0003508 Seizures Seizure 0001250 Selective tooth agenesis 0001592 Single
[rarediseases.info.nih.gov]
The hands are often short and broad and often have a single transverse palmar crease.
[msdmanuals.com]
transverse palmar crease, and short fifth finger with clinodactyly.
[dx.doi.org]
[…] brachycephalic head, epicanthic folds, flat nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single
[dx.doi.org]
transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487
[rarediseases.info.nih.gov]
[…] bottom foot Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ] 0001838 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single
[rarediseases.info.nih.gov]
transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow
[rarediseases.info.nih.gov]
Prominent lower jaw [ more ] 0000303 Mitral regurgitation 0001653 Prominent supraorbital ridges Prominent brow 0000336 Rectal prolapse Rectum protrudes through anus 0002035 Single
[rarediseases.info.nih.gov]
transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal
[pathophys.org]
[ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia
[symptoma.com]
[…] nose, flat nasal bridge, flat face, small dysplastic pinnae, protruding tongue Cardiac : congenital heart defects ( AVSD, VSD, Tetralogy of Fallot, ASD, PDA) MSK : hands (single
[pathophys.org]
transverse palmar crease 0000954 Thick upper lip vermilion Full upper lip Increased volume of upper lip Plump upper lip Prominent upper lip Thick upper lip [ more ] 0000215
[rarediseases.info.nih.gov]
[…] head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Midline brain calcifications 0007045 Single
[rarediseases.info.nih.gov]
transverse palmar crease 0000954 Situs inversus totalis All organs on wrong side of body 0001696 Small for gestational age Birth weight less than 10th percentile Low birth
[rarediseases.info.nih.gov]
[…] skin dimples over anterior/posterior fontanelles 0005498 Rectovaginal fistula Abnormal connection between rectum and vagina 0000143 Septate vagina Double vagina 0001153 Single
[rarediseases.info.nih.gov]
transverse palmar creases first metacarpal hypoplasia prominent interdigital folds single thumb creases Head And Neck Face: prognathism Head And Neck Mouth: thick, coarse
[malacards.org]
See also Dermatoglyphics External links An example of a single transverse palmar crease
[findzebra.com]
[…] trichodystrophy straw-like fragile hair irregular diameter of hair shaft with hypopigmentation and tendency to fracture (light microscopy) Skeletal Hands: brachydactyly single
[malacards.org]
Bilateral single transverse palmar creases MedGen UID: 354661 •Concept ID: C1862095 • Finding The distal and proximal transverse palmar creases are merged into a single transverse
[ncbi.nlm.nih.gov]
palmar crease on both hands.
[ncbi.nlm.nih.gov]
[…] integument Cutis marmorata Single transverse palmar crease Abnormality of the musculoskeletal system Fibular hypoplasia Hypoplasia of the radius Mesomelic arm shortening
[ncbi.nlm.nih.gov]
transverse palmar creases Head And Neck Eyes: short palpebral fissures corneal opacities
[malacards.org]
transverse palmar crease Ulnar bowing Abnormality of the cardiovascular system Cutis marmorata Abnormality of the eye Opacification of the corneal stroma Abnormality of the
[ncbi.nlm.nih.gov]
transverse palmar crease 0000954 Thin skin 0000963 Triphalangeal thumb Finger-like thumb 0001199 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 Wide
[rarediseases.info.nih.gov]
[…] nose [ more ] 0000448 Short philtrum 0000322 Short stature Decreased body height Small stature [ more ] 0004322 Short tibia Short shinbone Short skankbone [ more ] 0005736 Single
[rarediseases.info.nih.gov]
She had an interrupted single transverse palmar crease. Deep tendon reflexes were sluggish.
[cags.org.ae]
Other frequent features comprised facial dysmorphism, hyperextensible skin, joint hypermobility (JHM), single transverse palmar crease, severe hypermetropia, limb bowing,
[ojrd.biomedcentral.com]
transverse palmar crease Bladder diverticulum Cleft soft palate Keloids Stroke Arterial rupture High-frequency sensorineural hearing impairment Kyphoscoliosis Adrenal hyperplasia
[mendelian.co]
transverse palmar crease 0000954 Small scrotum Underdeveloped scrotum 0030276 Somatic mosaicism 0001442 Sparse anterior scalp hair Sparse scalp hair at front of head Thin
[rarediseases.info.nih.gov]
Kidney cyst 0000107 Renal dysplasia 0000110 Seizures Seizure 0001250 Short phalanx of finger Short finger bones 0009803 Short toe Short toes Stubby toes [ more ] 0001831 Single
[rarediseases.info.nih.gov]
Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited
[ncbi.nlm.nih.gov]
However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.
[ncbi.nlm.nih.gov]
transverse palmar crease ; Small scrotum ; Small sella turcica ; Toe syndactyly ; Uplifted earlobe ; Ventriculomegaly Associated Genes BMP4 (Withdrawn symbols: BMP2B ) Mouse
[mousephenotype.org]
transverse palmar crease 0000954 Small scrotum Underdeveloped scrotum 0030276 Toe syndactyly Fused toes Webbed toes [ more ] 0001770 Uplifted earlobe Lobe, uplifted Upturned
[rarediseases.info.nih.gov]
Preaxial hand polydactyly ; Protruding ear ; Renal hypoplasia ; Retinal dystrophy ; Retrognathia ; Sclerocornea ; Severe muscular hypotonia ; Short middle phalanx of finger ; Single
[mousephenotype.org]
transverse palmar crease 31 HP:0000954 15 recurrent infections 31 HP:0002719 16 increased susceptibility to fractures 31 HP:0002659 17 hirsutism 31 HP:0001007 18 decreased
[malacards.org]
transverse palmar crease 0000954 Synophrys Monobrow Unibrow [ more ] 0000664 Ulnar deviation of finger Finger bends toward pinky 0009465 Showing of 23 | Last updated: 2/1
[rarediseases.info.nih.gov]
31 HP:0001761 10 neutropenia 31 HP:0001875 11 abnormality of the respiratory system 31 HP:0002086 12 ulnar deviation of finger 31 HP:0009465 13 synophrys 31 HP:0000664 14 single
[malacards.org]
transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior
[rarediseases.info.nih.gov]
Self-mutilation Deliberate self-harm Self mutilation [ more ] 0000742 Shawl scrotum 0000049 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Single
[rarediseases.info.nih.gov]
transverse palmar crease Abnormality of the cardiovascular system ... ...
[familydiagnosis.com]
transverse palmar crease ; Sloping forehead ; Small face ; Tetralogy of Fallot ; Ventricular septal defect ; Wide mouth Associated Genes DDX11 (Withdrawn symbols: CHL1, CHLR1
[mousephenotype.org]
(HPO) Abnormality of head or neck Epicanthus High palate Microcephaly Optic nerve coloboma Sloping forehead Small face Wide mouth Abnormality of limbs 2-3 toe syndactyly Single
[familydiagnosis.com]
transverse palmar crease 0000954 Skin tags 0010609 Sparse hair 0008070 Split hand Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [ more ] 0001171
[rarediseases.info.nih.gov]
[…] umbilical artery, single transverse palmar creases, and hypotonia.
[nature.com]
Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].
[ncbi.nlm.nih.gov]
Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2-Mb deletion on 18q21.2 in one patient. Sequencing of the TCF4[…]
[ncbi.nlm.nih.gov]
Fleck-BJ; Pandya-A; Vanner-L; Kerkering-K; Bodurtha-J Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study AMERICAN-JOURNAL-OF-MEDICAL-GENETICS. FEB 15 2001; 99 (1) : 1-7 Yamamoto,-J Coffin-Siris syndrome Ryoikibetsu-Shokogun-Shirizu. 2001; (33): 471-2 Fleck,-B-J; Pandya,-A;[…]
[malattierare.regione.veneto.it]
This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition[…]
[books.google.com]
Pascale De Lonlay Sandrine Dubois Vassili Valayannopoulos Eliane Depondt Chris Ottolenghi Daniel Rabier Résumé Les anomalies congénitales de glycosylation ou CDG (Congenital Disorders of Glycosylation) forment une classe d’erreurs innées du métabolisme, affectant la synthèse des glycannes des glycoprotéines [1, 2]. La[…]
[link.springer.com]