Thumb Absence: Causes & Reasons

Possible Causes for Thumb Absence

brachydactyly, cleft hand, and absence of the opposite thumb. [rrnursingschool.biz]

Findings may include absence or hypoplasia of the radius, absence or hypoplasia of the scaphoid and trapezium bones of the wrist, or abnormalities of the thumb and the first [mhmedical.com]

Thumb involvement is the most typical clinical manifestation and can range from absence or hypoplasia to the presence of a triphalangic thumb. [rareguru.com]

Holt-Oram Syndrome

This rare syndrome characterized by upper limb defects such as carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray are more frequent [ajner.com]

The left thumb was hypoplastic with absence of the first metacarpal. [pubs.rsna.org]

Besides the absence of thumbs and an atrial septal defect, she presented multiple strokes and end-stage renal failure. [ncbi.nlm.nih.gov]

Fanconi Anemia Complementation Group Q

absence and severe left hypoplasia (Fig. 1a), and increased sensitivity to DNA interstrand-crosslinking agents of her cells (data no longer available). [bmcmedgenet.biomedcentral.com]

[…] of the right and severe hypoplasia of the left thumb (arrows) at about 15 months. b: High slanting eye lids and beginning freckling of the face at age 12 years. c: Low-set [bmcmedgenet.biomedcentral.com]

Portraits of FA-Q patient 3104 at different age, and characterization of her genetic and cellular defects. a: Typical FA puppet-like face, small head, light brown hair, absence [bmcmedgenet.biomedcentral.com]

Ventriculomegaly with Defects of the Radius and Kidney

Severity of skeletal abnormalities varies from absence of radii with sparing of the thumb to virtual absence of upper limbs with or without lower-limb defects [ 4 ]. [bmcresnotes.biomedcentral.com]

Radiographs of the upper limbs (Fig. 1)showed the absence of the radius and thumb on bothsides.Gross examination of the brain confirmed ventricu-lomegaly, with an occipital [documents.tips]

can also have very long thumb, like a finger, syndactyly, phocomelia (absence of proximal part of arm), radial hypoplasia or agenesis, clavicular anomalies, abnormal ulnar [quizlet.com]

Weyers Ulnar Ray - Oligodactyly Syndrome

Radial defects comprising hypoplasia or absence of the thumb, first metacarpal and radius are the most common skeletal malformations (Glanz and Fraser, 1982). [oandplibrary.org]

[…] deformity, alopecia, pigmentation anomaly Congenital bilateral absence of the vas deferens Alport syndrome Limb-girdle muscular dystrophy Short stature syndrome, Brussels [checkrare.com]

The most striking skeletal abnormality is bilateral radial absence with preservation of the thumbs. The hypomegalokaryocytic thrombocytopenia is of early onset. [oandplibrary.org]

Thrombocytopenia-Absent Radius Syndrome

It is characterized by low levels of platelets in the blood (thrombocytopenia), absence (aplasia) of the bone on the thumb side of the forearm (radius) on both arms, and underdevelopment [birthdefects.org]

TAR syndrome is characterized by bilateral absence of the radii (thumbs remain present) and transient thrombocytopenia. [invitae.com]

Discussion: - total absence of the thumb may be an isolated anomaly, but it is often associated with some other congenital malformation; - absent thumb may be inherited [wheelessonline.com]

RAPADILINO Syndrome

Other known symptoms include patellar aplasia/hypoplasia, thumb agenesis (or the absence of thumbs), radial aplasia/hypoplasia, dislocation of the joints, still interphalangeal [dianamossop.com]

Congenital Longitudinal Deficiency of the Ulna

MCPJ UCL, CMCJ instability - Underdevelopment or absence of thenar muscles Grade III: -Short thumb, severe 1 st web space contracture -Absence of proximal portion of 1 st [slideplayer.com]

[…] by structural anomalies in the thumb which can range from minor differences in size to complete absence of the digit. [posna.org]

In the current case the patient’s left upper limb had ULD with absence of the thumb and index finger. [docksci.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 [wikidoc.org]

[…] chromosome breakage Thrombocytopenia multiple congenital anomaly Thrombocytopenic purpura, autoimmune Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thumb [mindmappedia.com]

Congenital Absence of both Forearm and Hand

This type is usually unilateral and is sometimes associated with deformities like supernumerary thumb; absence of thumb, syndactylism .The disorder may be associated with [ispub.com]

There was also congenital absence of thumb (Figure 1). A clinical diagnosis of congenital club hand was made. [imagejournals.org]

There may be shortening of the bone, a small thumb, or absence of the thumb. Deformities of the wrist are usually operated on around 6 months of age. Ulnar clubhand. [hopkinsmedicine.org]

Congenital Absence of Upper Arm and Forearm with Hand Present

Note the congenital absence of the right radius and right thumb. In Fanconi's syndrome the thumb may occasionally be present. [rrnursingschool.biz]

There may be shortening of the bone, a small thumb, or absence of the thumb. Deformities of the wrist are usually operated on around 6 months of age. Ulnar clubhand. [hopkinsmedicine.org]

Usually accompanied by complete or partial absence or hypoplasia of the thumb. [ 2, 7 ] Longitudinal reduction defect of ulna (Q71.5) Complete or partial absence of the ulna [welfarejambo.blogspot.com]

Cooks Syndrome

[…] of distal phalanges and triphalangism of thumb. [ijpd.in]

[…] of distal phalanges Figure 4: Radiograph of right hand showing absence of distal phalanges and triphalangism of thumb. [journals.lww.com]

This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia [scinapse.io]

Nager Syndrome

absence of thumbs may be associated with distal hypoplasia or absence of radii with shortness and bowing of ulnae resulting in a radial club hand with or without antecubital [medical-dictionary.thefreedictionary.com]

[…] cheek Underdeveloped or missing thumbs Occasional absence of the radial limb Preaxial limb anomalies Other Problems [ edit ] Stomach reflux Kidney reflux Hearing loss Possible [en.wikibooks.org]

Upper limb defects include underdeveloped or missing thumbs and occasional absence of the radial limb. [fnms.org]

Acheiria, unilateral

Note the congenital absence of the right radius and right thumb. In Fanconi's syndrome the thumb may occasionally be present. [americorpshealth.biz]

Thus, radial aplasia with absence of the thumb and forefinger is characterized as a preaxial longitudinal hemimelia of the upper limb. [myfertilityguide.biz]

(a is Greek for none, cheir is hand) Complete adactylia Absence of the thumb and all the fingers and metacarpals. [obgynkey.com]

Amelia of Upper Limb

Note the congenital absence of the right radius and right thumb. In Fanconi's syndrome the thumb may occasionally be present. [americorpshealth.biz]

Thus, radial aplasia with absence of the thumb and forefinger is characterized as a preaxial longitudinal hemimelia of the upper limb. [myfertilityguide.biz]

(a is Greek for none, cheir is hand) Complete adactylia Absence of the thumb and all the fingers and metacarpals. [obgynkey.com]

Brachydactyly of Fingers

Reflecting this, there were atypical clinical features in this family, with shortening of the thumbs and absence or hypoplasia of the nails of the thumb and hallux. [pesquisa.bvsalud.org]

“Floating thumb,” where the thumb is attached to the hand by only a small skin bridge. Complete absence of the thumb. [dellchildrens.net]

This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia [scinapse.io]

Brachydactyly - Small Stature - Facial Anomalies

Clinical characteristics included short forearms (frequently with absence or hypoplasia of radius and/or ulna and humeroradial synostosis), absent thumbs, absence or hypoplasia [fdna.health]

Diamond-Blackfan Anemia Type 1

Brief report| July 17, 2014 Brief Report Katelyn E. Gagne 1Division of Hematology/Oncology, Stem Cell Program, and Search for other works by this author on:, Roxanne Ghazvinian 2Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Search for other[…] [ashpublications.org]

WT Syndrome

WT syndrome, an autosomal dominant condition, combines hematological abnormalities with mild lib defects. Anemia, pancytopenia, leukemia and lymphoma can occur at varying ages from childhood to middle age. Limb defects include ulnar and radial defects, bifid or hypoplastic thumbs and cutaneous syndactyly. Castleman[…] [ncbi.nlm.nih.gov]

Tunglang-Savage-Bellman Syndrome

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

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

Fibular Dimelia-Diplopodia Syndrome

Ulnar dimelia or mirror hand syndrome is a rare congenital anomaly of the upper limb characterized by absence of the radial ray (including thumb), duplication of the ulna [radiopaedia.org]

thumb phalangeal bone Thumb hypoplasia/aplasia/absence Trident hand/split hand/abnormal median ray Ulnar deviation of fingers Upper limb polydactyly/hexadactyly Postaxial [readbag.com]

[…] and lack of thumb). [ncbi.nlm.nih.gov]

Trueb-Burg-Bottani Syndrome

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

absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity Thumb deformity alopecia pigmentation anomaly Thumb stiff brachydactyly mental retardation [personalizedcause.com]

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

Tollner-Horst-Manzke Syndrome

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

Toriello-Lacassie-Droste Syndrome

absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb stiff brachydactyly mental retardation Thymic [mindmappedia.com]

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

Amelia and Terminal Transverse Hemimelia

(a is Greek for none, cheir is hand) Complete adactylia Absence of the thumb and all the fingers and metacarpals. [obgynkey.com]

Undergrowth Hypoplastic thumb - commonest of these Hypoplastic hand & digits 6. Congenital constriction bands 7. [boneschool.com]

Pre-axial Absence of the portion of the fore- arm and/or hand, or leg and/or foot on the thumb or the great-toe side of the limb (radial or tibial portion). [oandplibrary.org]

Thomas-Jewett-Raines Syndrome

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

Anonychia - Onychodystrophy Syndrome

absence of fingernails ( anonychia ) on the little and ring finger, elongation of the thumbs, and bulbousness of the fingers. [xpertdox.com]

Affiliated tissues include breast, and related phenotypes are broad thumb and brachydactyly OMIM : 58 Familial anonychia/onychodystrophy with hypoplasia or absence of distal [malacards.org]

[…] brachydactyly of the fifth finger, and digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet. [diseaseinfosearch.org]

Ectrodactyly of the Lower Limbs - Congenital Heart Defect - Micrognathia

Am-J-Med-Genet. 2001 Jun 15; 101(2): 158-62 Prues-Latour,-V; Papaloizos,-M Absence d'artere radiale. A propos d'un cas et revue de la litterature. [malattierare.regione.veneto.it]

Orthopade. 2001 Apr; 30(4): 226-30 Larson,-A-R; Josephson,-K-D; Pauli,-R-M; Opitz,-J-M; Williams,-M-S Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb [malattierare.regione.veneto.it]

Secundum Atrial Septal Defect with Various Cardiac and Non-Cardiac Defects

Am-J-Med-Genet. 2001 Jun 15; 101(2): 158-62 Prues-Latour,-V; Papaloizos,-M Absence d'artere radiale. A propos d'un cas et revue de la litterature. [malattierare.regione.veneto.it]

Congenital Heart Defects and Skeletal Malformations Syndrome

Am-J-Med-Genet. 2001 Jun 15; 101(2): 158-62 Prues-Latour,-V; Papaloizos,-M Absence d'artere radiale. A propos d'un cas et revue de la litterature. [malattierare.regione.veneto.it]