Possible Causes for absent or hypoplastic thumbs Baller-Gerold Syndrome In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental [ncbi.nlm.nih.gov] In BGS patients with absent or hypoplastic thumbs, pollicization of the index finger is an appropriate method to restore functional grasp; however, many patients with aplastic [neo-med.org] Thumbs, absent or hypoplastic (100%). Gastrointestinal. Imperforate anus (40%). Genitourinary (35%). Ectopic, hypoplastic, dysplastic or absent kidney. Ramos-Fuentes FJ. [fetalultrasound.com] Nager Syndrome Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones. [ncbi.nlm.nih.gov] […] or absent thumbs. [gynecology-obstetrics.imedpub.com] Keywords Nager syndrome; Acrofacial dysostosis; Branchial arch; Malar and mandibular hypoplasia; Ankylosis of temporo-mandibular joint; Hypoplastic thumb; Absent radius Introduction [omicsonline.org] Facioauriculoradial Dysplasia […] radius mesomelic arm shortening more Head And Neck Eyes: downslanting palpebral fissures Cardiovascular Heart: sinus arrhythmia Skeletal Hands: hypoplastic to aplastic thumbs [malacards.org] The thumbs may be absent or hypoplastic and there may be hypoplasia of the radius with radioulnar synostosis. [link.springer.com] […] rudimentary 2nd metacarpal club hand absent second finger Clinical features from OMIM: 171480 Human phenotypes related to Phocomelia-Ectrodactyly, Ear Malformation, Deafness [malacards.org] Holt Oram Syndrome […] presented with milder anomalies such as absent or hypoplastic thumbs but without arm abnormalities. [ncbi.nlm.nih.gov] They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies. [ijms.sums.ac.ir] Two patients had absent thumbs and first metacarpals, hypoplastic radii, and atrial and ventricular septal defects. [ncbi.nlm.nih.gov] Fanconi Anemia […] bone marrow, renal hypoplasia, absent or hypoplastic thumbs or radii, short stature and other anomalies; some patients have milder phenotype Thrombocytopenia: often the first [pathologyoutlines.com] These conditions in medical terminology are described as absent, hypoplastic or bifid thumb and hypoplastic or absent radii respectively. [pediatriconcall.com] […] features with occasional patients that are phenotypically normal (up to 30% according to some studies) Progressive lethal anemia associated with brown skin pigmentation, hypoplastic [pathologyoutlines.com] Tricho-Retino-Dento-Digital Syndrome […] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb stiff brachydactyly mental retardation Thymic [mindmappedia.com] […] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental [ipfs.io] […] chromosome breakage Thrombocytopenia multiple congenital anomaly Thrombocytopenic purpura, autoimmune Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thumb [mindmappedia.com] RAPADILINO Syndrome The characteristic manifestations are radial aplasia or hypoplasia, absence of thumbs, absent or hypoplastic patellae, dislocations of joints, unusual face, cleft or highly [ncbi.nlm.nih.gov] absent or hypoplastic patellae, dislocations of joints, unusual face, cleft or highly arched palate, diarrhea in infancy, small stature, and normal intelligence. [archivesofrheumatology.org] patellar aplasia, short stature, RAPADILINO syndrome Abstract RAPADILINO syndrome is described multimalformation syndrome with radial aplasia or hypoplasia, absence of thumbs [archivesofrheumatology.org] 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] Congenital Mandibular Hypoplasia /hypoplastic radius - Absent/hypoplastic thumb - Congenital heart defect, esp ASD secundum Other feats may incl other hypoplastic UL bones, syndactyly, absent pectoralis muscles [quizlet.com] […] early for HOCM and DM 1 in 100,000 AD inheritance of mutation in TBX5 gene (role in heart and upper limb development) Is a "Phenocopy" of Thalidomide poisoning Feats: - Absent [quizlet.com] Nail-Patella Syndrome or absent thumb nails; iliac horns; and elbow abnormalities. 1 Nephropathy is a known association 2 and may be a cause of death. [jamanetwork.com] […] or hypoplastic patellae Dislocated joints Cleft palate Facial dysmorphism Short stature Radial defects, including absent or hypoplastic thumbs & radii AR inheritance OMIM [ncbi.nlm.nih.gov] Nail patella syndrome, also known as hereditary osteo-onychodysplasia, is an autosomal dominant disorder characterized by hypoplastic or absent patellae; dysplastic, hypoplastic [jamanetwork.com] Thrombocytopenia-Absent Radius Syndrome Pollicization of the index finger for reconstruction of the congenitally hypoplastic or absent thumb. Pollicization of the index finger. [wheelessonline.com] Upper limbs : Absent radii bilaterally. The thumbs are present but can be hypoplastic. In severe cases, the ulna and humerus may also be hypoplastic. [genetics4medics.com] Thumb is always present in TAR but may be hypoplastic or absent in Fanconi anemia. [ispub.com] WT Syndrome hypoplastic thumbs syndactyly absent thumbs hypoplastic thumbs ulnar deviation of 1st, 3rd fingers fifth finger camptodactyly irregular hyperpigmentation hematological anomalies [humpath.com] Showing of 18 Percent of people who have these symptoms is not available through HPO Absent thumb Absent thumbs 0009777 Autosomal dominant inheritance 0000006 Clinodactyly [rarediseases.info.nih.gov] […] cryptorchidism radioulnar synostosis ulnar deviation radial deviation 5th finger clinodactyly neutropenia fifth finger clinodactyly short fingers ulnar defects radial defects bifid thumbs [humpath.com] Red Blood Cell Disorder Treatment 5mg per day for 3 weeks sufficient 40. c/f Absent or hypoplastic thumb Mental and sexual retardation 41. Causes of aplastic 42. [slideshare.net] Rothmund-Thomson Syndrome /absent thumbs, variety of skeletal abnormalities Eyes juvenile cataracts (40% to 50%) begins at 3 to 7 years old Endocrine Hypogonadism (25%) Teeth Dental clysplasia Neoplasia [cram.com] […] to absent thumbs, syndactyly, club foot; • Genitourinary/gastrointestinal: hypogonadism, cryptorchidism. [tandfonline.com] The latter often appear as congenital radial ray defects, ranging from absence of one or both radii to short dysmorphic ulnae, absent or hypoplastic thumbs (Fig. 1F ), hypoplasia [doi.org] Adult Fanconi Syndrome […] bone marrow, renal hypoplasia, absent or hypoplastic thumbs or radii, short stature and other anomalies; some patients have milder phenotype Thrombocytopenia: often the first [pathologyoutlines.com] […] features with occasional patients that are phenotypically normal (up to 30% according to some studies) Progressive lethal anemia associated with brown skin pigmentation, hypoplastic [pathologyoutlines.com] Microcytic Anemia […] right thumb and hypoplastic metacarpal and scaphoid bones ( Table 1 ). 8 In conclusion, these results highlight the power of WES as an unbiased NGS-based strategy for identifying [nature.com] thumb, hypoplastic metacarpal and scaphoid bones, bilateral post-axial polydactyly, oligodactyly and fusion of the third and fourth metatarsal of the left foot, brachymesophalangy [nature.com] We observed several distal limb anomalies in both groups of variant or deletion carriers, including clinodactyly of the fifth digit, valgus deformity of feet, absent right [nature.com] 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 [orpha.net] Diamond-Blackfan Anemia Type 2 […] kidney upper limb: absent thumb, hypoplastic thumbs, triphalangeal thumb Promoted articles (advertising) [radiopaedia.org] hypoplastic thumbs, syndactyly), heart (e.g., ventricular septal defects, atrial septal defects, coarctation of the aorta, tetralogy of Fallot) and genitourinary track [cancertherapyadvisor.com] […] congenital cataract, glaucoma, stabismus, amblyopia neck: small webbed neck cardiac: atrial septal defect, ventricular septal defect genitourinary: horseshoe kidney, hypospadias, absent [radiopaedia.org] Ring Chromosome 13 thumbs * Hypoplastic thumbs * Big toes * Fused toes * Pes calcaneovalgus * Fusion of metacarpal bones * Brachydactyly * Syndactyly * Polydactyly * Oligodactyly * Clubfoot [checkorphan.org] Small eyes * Coloboma * Widely spaced eyes * Downward slanting space between eyelids * Aniridia * Cleft lip * Cleft palate * Highly arched palate * Agenesis of sternum * Absent [checkorphan.org] Tel Hashomer Camptodactyly Syndrome […] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental [bioreference.net] Thumb absence hypoplastic halluces[?] Thumb absent short stature immune deficiency[?] Thumb deformity, alopecia, pigmentation anomaly[?] Thumb deformity[?] [encyclopedia.kids.net.au] Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb [bioreference.net] Leigh's Disease 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] Congenital Longitudinal Deficiency of the Ulna For example with an absent thumb the radial carpal bones are absent, while with a complete but hypoplastic thumb, the scaphoid and lunate are hypoplastic. [ijpoonline.com] Children with TAR syndrome tend to have normal thumbs (Fig. 7.8 ), whereas the thumbs of most children with an absent radius (in the absence of TAR) are absent or hypoplastic [radiologykey.com] […] anomalies Associated Conditions Radial dysplasia VACTERL Holt-Oram syndrome Thrombocytopenia absent radius Fanconi anemia Clinical Evaluation: History / Exam Findings thumb [posna.org] Skeletal Dysplasia The left radius is absent (the absence of left thumb is not well visualized). The orogastric tube does not pass through esophagus, and is twisted. [journals.lww.com] FIGURE 5: Radiograph of case 9 shows absence of lumbosacral vertebrae, thoracic vertebral defects, malformed ribs, dysplastic and hypoplastic pelvic bones, and “frog-like” [journals.lww.com] Acrofacial Dysostosis Type Rodríguez Am J Med Genet A 2005 May;135(1):81-5 Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium. The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of[…] [pubfacts.com] Familial Pterygium of the Conjunctiva Thrombocytopenia with Absent Radii • PHYSICAL FINDINGS – Bilateral radial Aplasia or hypoplasia (rarely phocomelia) – Thumbs present (may be hypoplastic)– Thumbs present [de.slideshare.net] Acheiria, unilateral In Fanconi's syndrome there is pancytopenia (anemia, neutropenia, and thrombocytopenia) in addition to the hypoplastic or absent thumbs and hypoplastic or absent radius. [americorpshealth.biz] The long head of the biceps muscle and the wrist extensors are absent or severely hypoplastic if the radius is completely absent. The finger extensors are present. [obgynkey.com] Note the club hand with absence of the radius and the thumb. This may be unilateral or bilateral. [americorpshealth.biz] Brachydactyly of Fingers See: - Absent Thumb - Annular Band Syndrome - Camptodactyly - Delta Phalanx - Hypoplastic Thumb - Lobster Hand - Macrodactyly : - Pouce Flottant Thumb - Polydactyly - Syndactyly [wheelessonline.com] On detailed physical examination his fingers were short with either absent or hypoplastic distal phalanges. The thumbs were of normal size and fingernails present. [ijcasereportsandimages.com] Cooks Syndrome It is characterized by congenital onychodystrophy and anonychia along with fifth finger brachydactyly, digitalization of the thumb, absent or hypoplastic distal phalanges [ijpd.in] fifth finger brachydactyly, and absent or hypoplastic distal phalanges of hands and feet. [accessanesthesiology.mhmedical.com] It is characterized by congenital onychodystrophy and anonychia along with fifth finger brachydactyly, digitalization of the thumb, absent/hypoplastic distal phalanges of [ijpd.in] Hirschsprung Disease Type D-Brachydactyly Syndrome […] fingernail [ more ] 0001804 Short distal phalanx of the thumb Short outermost bone of the thumb 0009650 Short phalanx of hallux Hypoplastic phalanges of the hallux Short [rarediseases.info.nih.gov] Showing of 8 80%-99% of people have these symptoms Aganglionic megacolon Enlarged colon lacking nerve cells 0002251 Aplastic/hypoplastic toenail Absent/small toenails Absent [rarediseases.info.nih.gov] /underdeveloped toenails [ more ] 0010624 30%-79% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Hypoplastic fingernail Small fingernail Underdeveloped [rarediseases.info.nih.gov] Humerus Trochlea Aplasia Children with TAR syndrome tend to have normal thumbs (Fig. 7.8 ), whereas the thumbs of most children with an absent radius (in the absence of TAR) are absent or hypoplastic [radiologykey.com] The thumb is absent in up to 75 % of patients and hypoplastic in another 20 % (Fig. 7.13 ). Occasionally there is a fleshy rudimentary appendage. [radiologykey.com] Fig. 7.13 Radial aplasia with absent thumb. The ulna is short and dysplastic ( arrow ), and the texture of the fat is abnormal. [radiologykey.com]
