Broad Thumb: Causes & Reasons

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Possible Causes for Broad Thumb

Rubinstein-Taybi Syndrome

Broad thumbs with angulation. (Courtesy of Dr. [clinicaladvisor.com]

Rubinstein-Taybi syndrome is a rare genodermatosis with characteristic features that include downward sloping palphebral fissures, broad thumbs and halluces, and mental retardation [ncbi.nlm.nih.gov]

Rubinstein-Taybi syndrome (RTS), also known as 'broad thumbs syndrome' or 'broad thumb-hallux syndrome', is a malformation syndrome characterized by the triad of broad thumbs [ncbi.nlm.nih.gov]

Weaver Syndrome

Limb abnormalities include prominent finger pads, camptodactyly, broad thumbs, thin and deep-set nails, clinodactyly, limited elbow and knee extension, wide distal long bones [sites.google.com]

[…] foot Broad feet Wide foot [ more ] 0001769 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Camptodactyly of finger Permanent flexion of the finger 0100490 Deep [rarediseases.info.nih.gov]

thumbs, feet malformations), genitourinary (GU) (inverted nipples, inguinal hernia, hydrocele, cryptorchism), skin (loose skin, thin hair and nails), and central nervous [accessanesthesiology.mhmedical.com]

Opitz-Kaveggia Syndrome

thumbs and halluces, abnormalities of the corpus callosum, intellectual disability, hypotonia, and characteristic behavior. [oxfordmedicine.com]

thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. [findexpertmd.com]

[…] forehead with upsweep of the hairline (cow's lick), wide-apart eyes, smallish external ears, broad thumbs and great toes congenital heart defect (see entry, Heart Defects [contact.org.uk]

Naguib Syndrome

[…] forehead Increased width of the forehead Wide forehead [ more ] 0000337 Broad hallux phalanx Broad bone of big toe Wide bone of big toe [ more ] 0010059 Broad thumb Broad [rarediseases.info.nih.gov]

Acro-fronto-facio-nasal syndrome type 2 Symptoms - Naguib-Richieri-Costa syndrome Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism, ptosis, proptosis, broad [checkorphan.org]

thumbs Wide/broad thumb [ more ] 0011304 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Eyelid coloboma Cleft eyelid Notched [rarediseases.info.nih.gov]

Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

thumb brachydactyly syndactyly short metacarpals short phalanges (middle phalanges) Genitourinary Internal Genitalia Male: cryptorchidism Cardiovascular Heart: atrial septal [malacards.org]

Broad thumb MedGen UID: 140880 • Concept ID: C0426891 • Finding Increased thumb width without increased dorso-ventral dimension. [ncbi.nlm.nih.gov]

and (3) broad terminal phalanges of thumbs and great toes. [healio.com]

Psychomotor Retardation - Epilepsy and Craniofacial Dysmorphism

[…] dystrophy Anal atresia Cough Coloboma Craniosynostosis Abnormality of the kidney Cleft lip Hydronephrosis Gastroesophageal reflux Arachnodactyly Pes planus Narrow chest Broad [mendelian.co]

thumb Short palm Tapered finger Myopia Anemia 3-Methylglutaconic aciduria Severe lactic acidosis Severe failure to thrive Hyperammonemia Visual loss Severe muscular hypotonia [mendelian.co]

Pfeiffer Syndrome

The characteristic feature that distinguishes Pfieffer syndrome from other types of syndromic craniosynostosis is the presence of the broad thumb and great toe. [chop.edu]

Broad thumb and great toe: differences of these digits are the hallmark of the syndrome Tracheal anomalies: tracheal cartilages may be fused into a long tube of solid cartilage [chop.edu]

Cloverleaf Skull

The diagnosis of Pfeiffer syndrome type 2 can be made based on distinctive features such as the cloverleaf head and the broad thumbs and toes. [consultant360.com]

Moreover, X-rays of the feet show broad, short big toes with incorrectly formed phalanges. X-rays of the hands show broad, short thumbs. [em-consulte.com]

The thumbs and big toes are short and broad. [ojrd.biomedcentral.com]

Leri Pleonosteosis

This syndrome is compared with the other acrocephalosyndactyly types and the various broad thumb and great toe syndromes. [jamanetwork.com]

thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Camptodactyly of finger Permanent flexion of the finger 0100490 Gait disturbance Abnormal gait Abnormal walk Impaired [rarediseases.info.nih.gov]

The features were short stature, narrowed palpebral fissures, short spade-like hands, broad thumbs in valgus position, genu recurvatum and generalized limitation of joint [omim.org]

Distal Symphalangism

thumbs and toes 184460 Stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies 244 Segregating proximal symphalangism (SYM1) 185800 Multiple joint [nature.com]

thumb 60 Occasional (29-5%) 8 abnormality of the nail 60 Occasional (29-5%) 9 platyspondyly 60 Occasional (29-5%) 10 epicanthus 60 Occasional (29-5%) 11 large iliac wings [malacards.org]

thumb 59 Occasional (29-5%) 8 abnormality of the nail 59 Occasional (29-5%) 9 platyspondyly 59 Occasional (29-5%) 10 epicanthus 59 Occasional (29-5%) 11 large iliac wings [malacards.org]

Melhem-Fahl Syndrome

thumbs Mental retardation short stature absent phalanges Mental retardation short stature Bombay phenotype Mental retardation short stature cleft palate unusual facies Mental [statemaster.com]

thumbs Mental retardation short stature Bombay phenotype Mental retardation short stature absent phalanges Mental retardation short stature cleft palate unusual facies Mental [mindmappedia.com]

[…] retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive spasticity Mental retardation psychosis macroorchidism Mental retardation short broad [statemaster.com]

Autosomal-Recessive Robinow Syndrome

thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Broad toe Wide toe 0001837 Clinodactyly Permanent curving of the finger 0030084 Clitoral hypoplasia Small clitoris Underdeveloped [rarediseases.info.nih.gov]

thumb ; Broad toe ; Clinodactyly ; Clitoral hypoplasia ; Cryptorchidism ; Delayed cranial suture closure ; Delayed eruption of permanent teeth ; Delayed skeletal maturation [mousephenotype.org]

Mesomelia (HP:0003027), Brachydactyly syndrome (HP:0001156), Clinodactyly (HP:0030084), Syndactyly (HP_0001159), Camptodactyly (HP:0012385), Broad thumb (HP:0011304), Short [databases.lovd.nl]

Tricho-Retino-Dento-Digital Syndrome

Trichorhinophalangeal syndrome type II Trichorhinophalangeal syndrome type III Trichothiodystrophy sun sensitivity Trigonocephaly bifid nose acral anomalies Trigonocephaly broad [mindmappedia.com]

Tricuspid dysplasia Tricyclic antidepressant overdose Trig–Trip Trigeminal neuralgia Trigger finger Trigonocephaly Trigonocephaly bifid nose acral anomalies Trigonocephaly broad [ipfs.io]

Trigonocephaly bifid nose acral anomalies Trigonocephaly broad thumbs Trigonocephaly ptosis coloboma Trigonocephaly ptosis mental retardation Trigonomacrocephaly tibial defect [bioreference.net]

Proximal Symphalangism Type 1B

Multiple synostoses syndrome ( SYNS ), proximal symphalangism ( SYM ), tarsal-carpal coalition ( TCC ) syndrome, stapes ankylosis with broad thumbs and toes ( SABTT ), and [radiopaedia.org]

Defects in NOG are a cause of stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]; also known as Teunissen-Cremers syndrome. [abcam.com]

Stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]: Congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great [genecards.org]

Cleidocranial Dysplasia

Height and Body Shape Shorter stature Short, tapered fingers and broad thumbs Flat feet Knocking knees 03 | Treatment People with CCD have a normal life expectancy and can [curascriptsd.com]

Other skeletal characteristics identified include: short, tapering fingers and short broad thumbs pes planus (flat feet) genu valgum (knock knees) scoliosis short stature. [contact.org.uk]

Crossed Polysyndactyly

We suggest that radiographs of the hands and feet should be performed in every patient, especially those with broad thumbs. [journals.lww.com]

Most infants with RSTS have thumbs and/or great toes that are abnormally broad as a result of unusual broadness of the bones in the tips of the thumbs and great toes (terminal [rarediseases.org]

In Polysyndactyly, the thumb usually shows the mildest degree of duPlication: broadness or bifidity of its distal Phalanx. [rrnursingschool.biz]

Mononen-Karnes-Senac Syndrome

thumbs Mental retardation short stature Bombay phenotype Mental retardation short stature absent phalanges Mental retardation short stature cleft palate unusual facies Mental [mindmappedia.com]

thumbs Mental retardation short stature absent phalanges Mental retardation short stature Bombay phenotype Mental retardation short stature cleft palate unusual facies Mental [thefullwiki.org]

Familial Scaphocephaly Syndrome

Similarly, Pfeiffer syndrome is distinguished by the presence of broad thumbs, and this feature was not present in any affected family members. [jmg.bmj.com]

The combination of broad thumbs and great toes along with typical craniofacial features usually raises the consideration of this diagnosis. [craniokids.co.za]

thumbs and great big toes How is Ruvalcaba Syndrome Diagnosed? [dovemed.com]

Cerebro-Facio-Thoracic Dysplasia

broad thumbs, microcephaly,abnormal dermatoglyphics and thoracic asymmetry with anarrow thorax, but without raised scapulae. [docslide.com.br]

Facial dysmorphia was characterized by a flat occiput, a large forehead, hypertelorism, a ... 518 Rubinstein-Taybi syndrome (broad thumb-hallux syndrome). [biomedsearch.com]

Craniosynostosis with broad thumbs. Phelan-McDermid syndrome. Chromosome 22q13 deletion syndrome. [neurometplus.com]

Malignant Hyperthermia - Arthrogryposis - Torticollis

thumbs Mental retardation short stature absent phalanges Mental retardation short stature Bombay phenotype Mental retardation short stature cleft palate unusual facies Mental [academickids.com]

Autosomal Dominant Larsen Syndrome

Broad thumbs, cylindrical fingers, short metacarpals, long proximal phalanges, short distal phalanges, and accessory and/or fused carpal and tarsal bones also occur. [web.archive.org]

thumbs * Undescended testes * Ocular hypertelorism * Cleft lift may also occur in some patients Causes Larsen syndrome is a rare autosomal dominant genetic disease; the causal [signssymptoms.org]

Broad outermost finger bone 0009836 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal [rarediseases.info.nih.gov]

Spondyloperipheral Dysplasia

[…] palm Broad hand Broad hands Wide palm [ more ] 0001169 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Cone-shaped epiphyses of the phalanges of the hand Cone-shaped [rarediseases.info.nih.gov]

[…] hands Short proximal and middle phalanges Very short distal phalanges (2nd, 3rd, 4th, 5th) Short, broad thumbs Short fingers Limbs Limited elbow extension Absent styloid [mnglabs.com]

[…] process of ulna 0005068 Acetabular spurs 0010454 Autosomal dominant inheritance 0000006 Barrel-shaped chest Barrel chest 0001552 Brachydactyly Short fingers or toes 0001156 Broad [rarediseases.info.nih.gov]

Dubowitz Syndrome

80%-99% of people have these symptoms Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Broad thumb Broad thumbs Wide/broad thumb [rarediseases.info.nih.gov]

Brachydactyly

thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Camptodactyly Permanent flexion of the finger or toe 0012385 Delayed cranial suture closure 0000270 Delayed eruption [rarediseases.info.nih.gov]

[…] distal phalanx of finger Broad outermost finger bone 0009836 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Concave nail Spoon-shaped nails 0001598 Short 4th [rarediseases.info.nih.gov]

Attachment of thumb close to wrist 0009623 Tarsal synostosis Fused ankle bones 0008368 5%-29% of people have these symptoms Broad hallux phalanx Broad bone of big toe Wide [rarediseases.info.nih.gov]

Postaxial Oligodactyly, Tetramelic

thumbs and halluces. [mendelian.co]

[…] jaw Acne Broad thumb Abnormality of the nail Sleep apnea Cone-shaped epiphysis Large hands Dysmenorrhea Palmoplantar keratoderma Widely spaced teeth Cerebral palsy Hoarse [mendelian.co]

Treacher-Collins syndrome Tricho-dento-osseous syndrome Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 and 3 Trichorhinophalangeal syndrome type 2 Trigonocephaly-broad [se-atlas.de]

Brachydactyly of Fingers

finger-like thumb. [checkorphan.org]

Note that broad thumb and abnormal curvature of thumb is due to presence of delta phalanx, seen in following radiograph. [emedicine.medscape.com]

thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Brachydactyly type B2 AD 20 63 PDE4D Acrodysostosis 2, with or without hormone resistance AD 15 38 PTDSS1 [blueprintgenetics.com]

Isolated Synostotic Plagiocephaly

Midface hypoplasia, broad thumbs or great toes. A spectrum of severity. Saethre-Chotzen: 1 in 100,000. Short forehead, beaked nose, ptosis, incomplete syndactyly. [ohsu.edu]

thumbs or great toes -Midface hypoplasia - BEAK nose -Mild cutaneous syndactyly -Class III malocclusion -Ocular hypertelorism -Shallow orbits / exorbitism -High risk for [quizlet.com]

Finally, in Pfeiffer syndrome (ACS V) strik- ing features are short and broad thumbs and big toes, the proximal phalanx occasionally being fused with the distal phalanx. [docslide.us]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

Note that broad thumb and abnormal curvature of thumb is due to presence of delta phalanx, seen in following radiograph. [emedicine.medscape.com]

thumb and toes (Teunissen-Cremers syndrome), Symphalangism, proximal, Tarsal-carpal coalition syndrome NOTCH1 Aortic valve disease NOTCH2 Alagille syndrome, Hajdu-Cheney [genda.com.ar]

Multiple Synostoses Syndrome Type 4

Stapes ankylosis with broad thumb and toes (also called Teunissen-Cremers syndrome) is characterized by progressive conductive hearing loss with subtle skeletal dysplasias [preventiongenetics.com]

Multiple synostoses syndrome (SYNS), proximal symphalangism (SYM), tarsal-carpal coalition (TCC) syndrome, stapes ankylosis with broad thumbs and toes (SABTT), and brachydactyly [radiopaedia.org]

thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Cone-shaped epiphysis Cone-shaped end part of bone 0010579 5%-29% of people have these symptoms Abnormality of the nail [rarediseases.info.nih.gov]

Symphalangism - Brachydactyly - Craniosynostosis

Multiple synostoses syndrome (SYNS), proximal symphalangism (SYM), tarsal-carpal coalition (TCC) syndrome, stapes ankylosis with broad thumbs and toes (SABTT), and brachydactyly [radiopaedia.org]