Absent or Hypoplastic Thumbs: Causes & Reasons

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Possible Causes for Absent or Hypoplastic Thumbs

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]

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]

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. [casesjournal.biomedcentral.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]

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]

Acrofacial Dysostosis Type Rodríguez

Introduction This extremely rare disease has autosomal recessive inheritance and is characterized by short stature, malar hypoplasia, downslanting palpebral fissures, prominent and broad nasal bridge, cleft palate, severe micrognathia and microstomia, low-set auricles with microtia and stenotic or atretic ear canals,[…] [accessanesthesiology.mhmedical.com]

Autosomal Recessive Amelia

The right thumb was absent, the left hypoplastic. Both fifth digits were short. [tandfonline.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]

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]

"Fingerized" hypoplastic thumb, absent thumb, syndactyly, clinodactyly. Triphalangeal thumb (also seen in Aase syndrome and Nager syndrome). [fetalultrasound.com]

Humeroradial Synostosis with Craniofacial Anomalies

The right thumb was absent, the left hypoplastic. Both fifth digits were short. [tandfonline.com]

TABLE 38.2 Modified Bayne Classification of Radial Longitudinal Deficiency Type Thumb Carpus Distal Radius Proximal Radius N Hypoplastic or absent Normal Normal Normal 0 Hypoplastic [musculoskeletalkey.com]

PROBABLE SECOND FETUS WITH MARLES-CHUDLEY SYNDROME: CARDIAC CALCIFICATIONS WITH ULNAR DEFICIENCY AND ABSENT/HYPOPLASTIC THUMBS Published online: 09 July 2009 Figure 1 (a) [tandfonline.com]

Tunglang-Savage-Bellman Syndrome

[…] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental [wikidoc.org]

Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb [wikidoc.org]

Absent Radius - Anogenital Anomalies Syndrome

[…] or hypoplastic thumbs; absent carpals; metacarpals; and phalanges. [accesspediatrics.mhmedical.com]

augment/bone graft or consider pollicization; - pouce flottant thumb - absent thumb Symposium--The Thumb: Reconstruction of the Hypoplastic Thumb. [wheelessonline.com]

The thumb is often absent or hypoplastic in this condition. [ncbi.nlm.nih.gov]

Familial Broad Terminal Phalanges

The disorder is characterized by brachydactyly, hypoplastic finger and second toe nails, absent middle phalanges in the fingers and lateral four toes, duplicated distal phalanges [pediatrics.aappublications.org]

[…] of the thumbs, and possible hypoplasia of the auricular cartilage. [pediatrics.aappublications.org]

Toriello-Lacassie-Droste Syndrome

Thumb absence hypoplastic halluces[?] Thumb absent short stature immune deficiency[?] Thumb deformity, alopecia, pigmentation anomaly[?] Thumb deformity[?] [encyclopedia.kids.net.au]

[…] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental [wikidoc.org]

Tibial Hemimelia - Cleft Lip/Palate

Based on the radiographic appearance, four types of tibial hemimelia have been recognized : type 1: absent tibia type 1a: with absent tibia and hypoplastic lower femoral [devel.pacs.de]

Tibial hemimelia is associated with several syndromes: Werner syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) CHARGE syndrome Classification [devel.pacs.de]

Roberts Syndrome

The right thumb was absent and the left thumb was hypoplastic (Figure 2). [jamanetwork.com]

He had bilaterally absent forearms, only had four digits in both hands with absent thumbs and single distal palmer crease. [jpma.org.pk]

In lower limbs thighs were short, legs were deformed and hypoplastic, knees were fixed and ankylosed and feet had bilateral talipes equinovarus (Figure 3). [jpma.org.pk]

Teebi-Shaltout Syndrome

Thumb absence hypoplastic halluces[?] Thumb absent short stature immune deficiency[?] Thumb deformity, alopecia, pigmentation anomaly[?] Thumb deformity[?] [encyclopedia.kids.net.au]

[…] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental [bioreference.net]

Fanconi Anemia Complementation Group E

[…] 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]

Fanconi Anemia Complementation Group L

Fanconi Anemia Complementation Group A

Trichodysplasia - Xeroderma Syndrome

[…] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental [wikidoc.org]

Thumb absence hypoplastic halluces[?] Thumb absent short stature immune deficiency[?] Thumb deformity, alopecia, pigmentation anomaly[?] Thumb deformity[?] [encyclopedia.kids.net.au]

Diamond-Blackfan Anemia Type 9

[…] kidney upper limb: absent thumb, hypoplastic thumbs, triphalangeal thumb As patients age, they may develop findings from iron overload due to the chronic need for transfusions [radiopaedia.org]

thumbs, syndactyly), heart (e.g., ventricular septal defects, atrial septal defects, coarctation of the aorta, tetralogy of Fallot) and genitourinary track (e.g., absent [cancertherapyadvisor.com]

[…] cataract, glaucoma, strabismus, amblyopia neck: small webbed neck cardiac: atrial septal defect, ventricular septal defect genitourinary: horseshoe kidney, hypospadias, absent [radiopaedia.org]

Adult Fanconi Syndrome

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]

Diamond-Blackfan Anemia Type 4

[…] kidney upper limb: absent thumb, hypoplastic thumbs, triphalangeal thumb Promoted articles (advertising) [radiopaedia.org]

[…] 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]

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]

Blackfan-Diamond Anemia Type 10

Rhizomelic Syndrome Type Urbach

[…] radii, hypoplastic thumbs, premalignant acral keratoses, cataracts, alopecia, nail dystrophy, inc osteosarcoma and SCC (Katherine Roth with sun damage and cancer eating away [quizlet.com]

[…] focal PPK AD; unknown; atrophoderma vermiculatum, BCC's, hypotrichosis Rothmund-Thomson syndrome (poikiloderma congenitale) AR; RECQL4 (DNA helicase); photosensitivity, absent [quizlet.com]

Fanconi Anemia

These conditions in medical terminology are described as absent, hypoplastic or bifid thumb and hypoplastic or absent radii respectively. [pediatriconcall.com]

Trichoodontoonychial Dysplasia