Other forms of Seckel syndrome are caused by mutations in genes associated with cell growth (TRAIP), genomic integrity and repair (ATR, NSMCE2, DNA2, and RBBP8), centrosome
[bmcmedgenomics.biomedcentral.com]
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 DNA2 gene (601810) ...
[findzebra.com]
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]
DNA2 gene ( OMIM ) on chromosome 10q21; SCKL9 ( OMIM ), caused by mutation in the TRAIP gene ( OMIM ) on chromosome 3p21; and SCKL10 ( OMIM ), caused by mutation in the NSMCE2
[mendelian.co]
transverse palmar crease Feeding difficulties Depressed nasal bridge Abnormal facial shape Muscular hypotonia Motor delay Failure to thrive Generalized hypotonia Thick eyebrow
[mendelian.co]
[…] in the CEP63 gene ( OMIM ) on chromosome 3q22; SCKL7 ( OMIM ), caused by mutation in the NIN gene ( OMIM ) on chromosome 14q22; SCKL8 ( OMIM ), caused by mutation in the
[mendelian.co]
A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.
[msdmanuals.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]
Another gene that has been implicated in this condition is DNA2. [7] Mutations in this gene have been implicated in Seckel syndrome.
[en.wikipedia.org]
transverse palmar crease ; Sloping forehead ; Small anterior fontanelle ; Sparse and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth ; Tetralogy of Fallot
[mousephenotype.org]
In January 2008, it was published that mutations in the pericentrin gene ( PCNT ) were found to cause primordial dwarfism. [6] Pericentrin has a role in cell division, proper
[en.wikipedia.org]
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]
DNA2 gene ( OMIM ) on chromosome 10q21; SCKL9 ( OMIM ), caused by mutation in the TRAIP gene ( OMIM ) on chromosome 3p21; and SCKL10 ( OMIM ), caused by mutation in the NSMCE2
[mendelian.co]
transverse palmar creases q11.23 q11.23 ELN Pettigrew et al., ACMG2007, Program #96, Bay et al., ACMG2007, Program #164 Edit 62 18266245; Merritt_ACMG2007 46,XY.arr (7q11.23
[chr7.org]
transverse palmar crease Tapered finger Thick eyebrow Pruritus Telangiectasia Blepharophimosis Hyperlordosis Cutis laxa Decreased liver function Megakaryocytopenia Need help
[mendelian.co]
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]
transverse palmar crease, and bilateral reducible talipes equinovarus were reported.
[frontiersin.org]
[…] 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]
The hands are often short and broad and often have a single transverse palmar crease.
[merckmanuals.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]
DNA2 gene ( OMIM ) on chromosome 10q21; SCKL9 ( OMIM ), caused by mutation in the TRAIP gene ( OMIM ) on chromosome 3p21; and SCKL10 ( OMIM ), caused by mutation in the NSMCE2
[mendelian.co]
transverse palmar crease Full cheeks Thick eyebrow Delayed speech and language development Tics Pica Motor delay Apnea Postnatal growth retardation Respiratory distress Cleft
[mendelian.co]
[…] in the CEP63 gene ( OMIM ) on chromosome 3q22; SCKL7 ( OMIM ), caused by mutation in the NIN gene ( OMIM ) on chromosome 14q22; SCKL8 ( OMIM ), caused by mutation in the
[mendelian.co]
Seckel syndrome MedGen UID: 78534 • Concept ID: C0265202 • Disease or Syndrome A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene
[ncbi.nlm.nih.gov]
transverse palmar crease Thick eyebrow Thin vermilion border Smooth philtrum Broad forehead Brachycephaly Small for gestational age Prominent nasal bridge Sparse hair Finger
[mendelian.co]
CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene.
[ncbi.nlm.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]
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]
[…] 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]
single transverse palmar crease.
[ncbi.nlm.nih.gov]
[from OMIM] From HPO Single transverse palmar crease MedGen UID: 96108 •Concept ID: C0424731 • Finding The distal and proximal transverse palmar creases are merged into a
[ncbi.nlm.nih.gov]
transverse palmar crease Abnormality of the eye Hypertelorism Hypotelorism Abnormality of the musculoskeletal system Generalized hypotonia Hypotonia Inguinal hernia Umbilical
[ncbi.nlm.nih.gov]
transverse palmar crease Thin skin Triphalangeal thumb Wide anterior fontanel Wide nasal bridge Very frequently present symptoms in 80-99% of the cases: Hand oligodactyly
[dovemed.com]
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]
transverse palmar creases.
[obgynkey.com]
transverse palmar crease Tapered finger Abnormality of prenatal development or birth Thickened nuchal skin fold Abnormality of the breast Wide intermamillary distance Abnormality
[ncbi.nlm.nih.gov]
Thin upper lip vermilion U-Shaped upper lip vermilion Wide mouth Wide nose Abnormality of limbs Broad palm Clinodactyly Clubfoot Radial deviation of finger Short finger Single
[ncbi.nlm.nih.gov]
transverse palmar crease Abnormality of prenatal development or birth Oligohydramnios Abnormality of the eye Developmental cataract Hypertelorism Microphthalmia Optic atrophy
[ncbi.nlm.nih.gov]
[…] full author information Show allHide all Abnormality of head or neck Bulbous nose Depressed nasal bridge Low anterior hairline Narrow palpebral fissure Abnormality of limbs Single
[ncbi.nlm.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 ; 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]
Gene Role Disease OMIM Descriptions Sources DNA2 causing PEOA6 615156 The disease is caused by mutations affecting the gene represented in this entry.
[nectarmutation.org]
DNA2 DNA replication helicase/nuclease 2 1763 Alias: DNA2L, hDNA2 This gene encodes a member of the DNA2/NAM7 helicase family.
[dharmacon.horizondiscovery.com]
Gene Summary This gene encodes a member of the DNA2/NAM7 helicase family.
[empiregenomics.com]
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 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]
Single transverse palmar crease MedGen UID: 96108 •Concept ID: C0424731 • Finding The distal and proximal transverse palmar creases are merged into a single transverse palmar
[ncbi.nlm.nih.gov]
transverse palmar crease Small hand Tapered finger Abnormality of prenatal development or birth Fetal nuchal edema Abnormality of the breast Supernumerary nipple Abnormality
[ncbi.nlm.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 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, 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]