Single-transverse-palmar-crease: Causes & Reasons

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Possible Causes for single transverse palmar crease

Patau Syndrome

A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common. [merckmanuals.com]

Aarskog-Scott Syndrome

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]

Trisomy 21

The hands are typically 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]

The hands are often short and broad and often have a single transverse palmar crease. [merckmanuals.com]

Postaxial Oligodactyly, Tetramelic

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 Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon [mendelian.co]

transverse palmar crease Radial deviation of finger Broad hallux Cleft upper lip Gastrointestinal dysmotility Postnatal macrocephaly Microtia, first degree Branchial fistula [mendelian.co]

Coffin-Lowry Syndrome

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]

Kaufman Oculocerebrofacial Syndrome

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]

Seckel Syndrome

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]

Stuve-Wiedemann Syndrome

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]

Zellweger Syndrome

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]

Rubinstein-Taybi Syndrome

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]

Pallister-Killian Syndrome

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]

Pitt-Hopkins Syndrome

Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the[…] [ncbi.nlm.nih.gov]

Gorlin-Chaudhry-Moss Syndrome

Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases [rarediseases.info.nih.gov]

Wolf-Hirschhorn Syndrome

[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]

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]

[…] 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]

Miller-Dieker Syndrome

From Wikidata Jump to navigation Jump to search A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. Miller-Dieker syndrome MDS Miller-Dieker lissencephaly syndrome Telomeric deletion[…] [wikidata.org]

Distal Symphalangism

(29-5%) 20 tall stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954 24 camptodactyly [malacards.org]

(29-5%) 20 tall stature 32 HP:0000098 21 short 1st metacarpal 32 HP:0010034 22 broad foot 32 HP:0001769 23 single transverse palmar crease 32 HP:0000954 24 camptodactyly [malacards.org]

Micrognathism

transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue. [eng.ichacha.net]

transverse palmar crease, telecanthus, micrognathism and furrowed tongue. [diki.pl]

[…] anomalies "'( "'MPA "'s ) are relatively minor ( typically painless and, in themselves, harmless ) congenital physical abnormalities consisting of features such as low-set ears, single [eng.ichacha.net]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

transverse palmar crease 0000954 Symphalangism affecting the phalanges of the hallux Fused big toe bones 0010064 Showing of 19 Last updated: 5/1/2019 If you need medical [rarediseases.info.nih.gov]

[…] finger Fused innermost and middle bones of little finger Fused innermost and middle bones of pinkie finger Fused innermost and middle bones of pinky finger [ more ] 0009177 Single [rarediseases.info.nih.gov]

Ring Chromosome 10

Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar [ncbi.nlm.nih.gov]

The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases [malacards.org]

creases, undescended testes, and hypoplastic scrotum. [ncbi.nlm.nih.gov]

Polydactyly of a Biphalangeal Thumb

Typical features of DS were noted, including hypotonia, brachycephaly, upslanting palpebral ï ssures, ï at nasal bridge, low-set ears, a single transverse palmar crease [deepdyve.com]

Ring Chromosome 7

transverse palmar crease 0000954 Small hand Disproportionately small hands 0200055 1%-4% of people have these symptoms 3-4 toe syndactyly Webbed 3rd-4th toes 0009779 Bifid [rarediseases.info.nih.gov]

[…] prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Melanoma 0002861 Single [rarediseases.info.nih.gov]

Rasmussen Johnsen Thomsen Syndrome

palmar crease * Pyloric stenosis * Bulging eyes Causes - Rasmussen Johnsen Thomsen syndrome Not supplied. [checkorphan.org]

Short fifth fingers, bilateral single transverse palmar creases, pyloric stenosis, and congenital exotropia were other findings. [omim.org]

Symptoms - Rasmussen Johnsen Thomsen syndrome * Ear canal atresia * Foot anomalies * Rigid rocker-bottom feet * Flat feet * Wide set eyes * Short fifth fingers * Single transverse [checkorphan.org]

Tetragametic Chimerism

transverse palmar crease 60 33 frequent (33%) Frequent (79-30%) HP:0000954 15 global developmental delay 60 Excluded (0%) 16 abnormality of the testis 60 Very frequent (99 [malacards.org]

90%) Very frequent (99-80%) HP:0012861 12 clitoral hypertrophy 33 hallmark (90%) HP:0008665 13 abnormal cellular immune system morphology 33 hallmark (90%) HP:0010987 14 single [malacards.org]

Absent Thumb - Short Stature - Immunodeficiency Syndrome

transverse palmar crease Brachycephaly Coma Respiratory insufficiency Anteverted nares Craniosynostosis Wide nasal bridge Hypertension Epicanthus Visual impairment Anal atresia [mendelian.co]

transverse palmar crease -Complete atrioventricular canal VSD ASD -Duodenal atresai, hirschsprung disease -earlyonset AD -Hypothyroidism, DMI -Atlantoaxial instability CAH [quizlet.com]

transverse palmar crease, characteristic facial appearance (epicanthal folds, upslanting palpebral fissures, protruding tongue) Leukemia : CBC annually, consider BM evaluation [hematology.org]

Craniosynostosis Type 3

palmar crease Abnormality of the eye Ptosis Strabismus Abnormality of the integument Low anterior hairline Single transverse palmar crease Abnormality of the musculoskeletal [ncbi.nlm.nih.gov]

[from OMIM] Show allHide all Abnormality of head or neck Craniosynostosis syndrome Low anterior hairline Abnormality of limbs Brachydactyly Hallux valgus Single transverse [ncbi.nlm.nih.gov]

Short Stature due to Endocrine Disorder

transverse palmar crease 0000954 Truncal obesity 0001956 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory [rarediseases.info.nih.gov]

[…] delay 0001270 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220 Single [rarediseases.info.nih.gov]

Adactyly of Foot

[…] palpebral fissure Death in infancy Single transverse palmar crease Thin vermilion border Joint hyperflexibility Postnatal growth retardation Monorchism Need help with a diagnosis [mendelian.co]

Replaces: Incurved Finger Palmar Crease, Single Transverse Objective: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease Comments [quizlet.com]

transverse palmar crease Broad hallux Downslanted palpebral fissures Cleft upper lip Patent foramen ovale Short finger Depressivity Autistic behavior Delayed skeletal maturation [mendelian.co]

Gram-Negative Septicaemia

Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases [orpha.net]

Anonychia Congenita Totalis

Other anomalies include clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. [database.pherobase.com]

Other anomalies in- clude clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. [docslide.net]

In addition, the children have single transverse palmar creases and fifth-finger clin- odactyly as minor anomalies. Inheritance is likely to be autosomal-recessive. [docslide.net]

Leigh's Disease