Possible Causes for broad thumb Rubinstein-Taybi Syndrome 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] Broad thumbs with angulation. (Courtesy of Dr. [clinicaladvisor.com] 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] Limb abnormalities consist of prominent finger pads, thin and deeply-set nails, camptodactyly, wide distal long bones, foot deformities, and broad thumbs. [cags.org.ae] 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] Type 1 has the more typical features with midface hypoplasia, broad thumbs and toes, craniosynostosis, and often some degree of syndactyly. [disorders.eyes.arizona.edu] 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] 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 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] 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] 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] 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 lead [curascriptsd.com] Affected individuals may be 3 to 6 inches shorter than other members of their family, and may have short, tapered fingers and broad thumbs ; short forearms; flat feet ; knock [web.archive.org] 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] 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] 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] 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 [wikidoc.org] 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] Proximal Symphalangism 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] 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] 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] Kohlschütter-Tönz Syndrome thumbs and toes, microcephaly, coarse hair, mildly asymmetric skull, up slanting palpebral fissures which is where the outside corners of the eyes are higher than normal, [en.wikipedia.org] […] originated as a heterogeneous syndrome but has been observed as homogeneous in the case of KTS. [5] [6] [9] Other physical symptoms that some cases have presented with include broad [en.wikipedia.org] 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 [en.wikipedia.org] Mental retardation short broad thumbs[?] Mental retardation short stature absent phalanges[?] Mental retardation short stature Bombay phenotype[?] [encyclopedia.kids.net.au] […] retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive spasticity Mental retardation psychosis macroorchidism Mental retardation short broad [en.wikipedia.org] 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] Treacher-Collins syndrome Tricho-dento-osseous syndrome Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 and 3 Trichorhinophalangeal syndrome type 2 Trigonocephaly-broad [se-atlas.de] 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] Taybi, H. (1963) Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. American Journal of Diseases of Children, 105, 588. Smith, D. [vdocuments.site] Craniofrontonasal Dysplasia Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia [ncbi.nlm.nih.gov] thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). [orpha.net] Fingers of the hands were long with relatively broad thumb. Finger and toe nails were concave and hypoplastic, but no longitudinal cleft was found. [mjdrdypu.org] 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] Mental retardation short broad thumbs[?] Mental retardation short stature absent phalanges[?] Mental retardation short stature Bombay phenotype[?] [encyclopedia.kids.net.au] thumbs Mental retardation short stature absent phalanges Mental retardation short stature Bombay phenotype Mental retardation short stature cleft palate unusual facies Mental [thefullwiki.org] Humero-Radial Synostosis Humeroradial synostosis, together with brachy-cephaly, mild syndactyly, and broad thumbs and toes, also occurs with Pfeiffer syndrome (acrocephalosyn-dactyly, OMIM 101600) [rrnursingschool.biz] thumbs and great toes, and triangular hypoplastic first proximal phalanges [1]. [eurorad.org] /toes Pfeiffer Syndrome 2: Traits Brachydactyly, clover leaf skull, proptosis, broad thumbs/toes, ID, ankylosis of elbows/knees Pfeiffer Syndrome 3: Traits Choanal stenosis [quizlet.com] 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] Osteoarthritis The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis [orpha.net] 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] The primary characteristics manifest themselves in joint hyper-mobility, congenital dislocations, broad thumbs, cylindrical fingers, short metacarpals, long proximal phalanges [lenoracrounds.hatenablog.com] Apert Syndrome Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Broad thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Cervical C5/C6 vertebrae fusion 0004635 Convex [rarediseases.info.nih.gov] This patient also has characteristic concave palms, hitchhiker posture (radial deviation) of the short broad thumbs, and contiguous nail beds (synonychia). [emedicine.medscape.com] […] distal hallux 0008111 Broad distal phalanx of the thumb Broad outermost bone of the thumb Wide outermost bone of thumb [ more ] 0009642 Choanal stenosis Narrowing of the [rarediseases.info.nih.gov] Congenital Malformation of the Knee Joint Type 1 is categorized by craniosynostosis, broad thumbs, syndactyly, and normal intelligence compatible with life. [semanticscholar.org] Treacher-Collins syndrome Tricho-dento-osseous syndrome Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 and 3 Trichorhinophalangeal syndrome type 2 Trigonocephaly-broad [se-atlas.de] Type 2 is categorized by cloverleaf skull, ocular proptosis, broad thumbs, visceral anomalies, and severe neurologic compromise. Type 3… CONTINUE READING [semanticscholar.org] Myelocerebellar Disorder thumbs * Mental retardation short stature absent phalanges * Mental retardation short stature Bombay phenotype * Mental retardation short stature cleft palate unusual facies [en.academic.ru] thumbs Mental retardation short stature absent phalanges Mental retardation short stature Bombay phenotype Mental retardation short stature cleft palate unusual facies Mental [thefullwiki.org] […] nasal papillomata * Mental retardation osteosclerosis * Mental retardation progressive spasticity * Mental retardation psychosis macroorchidism * Mental retardation short broad [en.academic.ru] Acrocallosal Syndrome His left hand displayed a broad thumb and 4/5 syndactyly. [ncbi.nlm.nih.gov] His hands showed bilateral postaxial nubbins, a broad thumb on the right hand, and a partially duplicated thumb on the left. [jmg.bmj.com] Brachydactyly […] 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] 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] Facial features (A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing short broad thumbs (D). [ncbi.nlm.nih.gov] Craniosynostosis Type 4 Pfeiffer syndrome is characterized by brachycephaly, broad thumbs or great toes, brachydactyly ( short digits), midface deficiency, ocular hypertelorism (widely separated [dr-bianca-knoll.com] An unusual type of acrocephalosyndactyly with broad thumbs and great toes. Amer. J. Dis. Child. 121, 257 (1971) Google Scholar 25. McKusick, V. [link.springer.com] Pfeiffer's syndrome is characterized by tall, broad skull, hypertelorism, slanted palpebral fissures, and broad thumbs and toes; mentation is usually normal. [thamburaj.com]
