Aplasia/Hypoplasia of the thumb

Symptom Information:

Symptom ID: HPO:0009601
Synonyms:
Absent or hypoplastic thumbs [HPO:0009601]
Absent/hypoplastic thumb [HPO:0009601]
Absent/hypoplastic thumbs [HPO:0009601]
Aplasia/hypoplasia of thumbs [HPO:0009601]
Aplastic/hypoplastic thumbs [HPO:0009601]
Hypoplastic to aplastic thumbs [HPO:0009601]
Hypoplastic/absent thumb [HPO:0009601]
Thumb aplasia/hypoplasia [HPO:0009601]
Absent thumb [Orphanet:20680]
Hypoplasia of thumb (disorder) [Orphanet:20680]
Thumb absent (finding) [Orphanet:20680]
Hypoplasia of thumb [Orphanet:20680]
Thumb absent [Orphanet:20680]
Absent or hypoplastic thumbs [OMIM:Absent or hypoplastic thumbs]
Absent/hypoplastic thumb [OMIM:Absent/hypoplastic thumb]
Absent/hypoplastic thumbs [OMIM:Absent/hypoplastic thumbs]
Aplasia/hypoplasia of thumbs [OMIM:Aplasia/hypoplasia of thumbs]
Aplastic/hypoplastic thumbs [OMIM:Aplastic/hypoplastic thumbs]
Hypoplastic to aplastic thumbs [OMIM:Hypoplastic to aplastic thumbs]
Hypoplastic/absent thumb [OMIM:Hypoplastic/absent thumb]
Thumb aplasia/hypoplasia [OMIM:Thumb aplasia/hypoplasia]
Thumb hypoplasia/aplasia/absence [Orphanet:20680]
Absent thumb(s) [OMIM:Absent thumb(s)]
Absent thumbs (1 patient) [OMIM:Absent thumbs (1 patient)]
Quality:
Cross references:
HPO:0009777 "Absent thumb" [Orphanet:20680]
HPO:0005834 "Thumbs hypo/aplastic" [Orphanet:20680]
Orphanet:20680 "Thumb hypoplasia/aplasia/absence" [Orphanet:20680]
OMIM: "Absent or hypoplastic thumbs" [OMIM:Absent or hypoplastic thumbs]
OMIM: "Absent/hypoplastic thumb" [OMIM:Absent/hypoplastic thumb]
OMIM: "Absent/hypoplastic thumbs" [OMIM:Absent/hypoplastic thumbs]
OMIM: "Aplasia/hypoplasia of thumbs" [OMIM:Aplasia/hypoplasia of thumbs]
OMIM: "Aplastic/hypoplastic thumbs" [OMIM:Aplastic/hypoplastic thumbs]
OMIM: "Hypoplastic to aplastic thumbs" [OMIM:Hypoplastic to aplastic thumbs]
OMIM: "Hypoplastic/absent thumb" [OMIM:Hypoplastic/absent thumb]
OMIM: "Thumb aplasia/hypoplasia" [OMIM:Thumb aplasia/hypoplasia]
OMIM: "Absent thumb(s)" [OMIM:Absent thumb(s)]
OMIM: "Absent thumbs (1 patient)" [OMIM:Absent thumbs (1 patient)]
UMLS:C0431890 "Hypoplasia of thumb" [Orphanet:20680]
UMLS:C0241391 "Thumb absent" [Orphanet:20680]
Is a (Direct Parents):
HPO         Abnormality of the thumb
Orphanet Abnormality of the hand
HPO         Aplasia/Hypoplasia of fingers
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Abnormality of finger(HPO:0001167)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                            Abnormality of the thumb(HPO:0001172)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                         Abnormality of the thumb(HPO:0001172)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                      Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
MedDRA:
Database Frequency: 80 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
Absent thumb - short stature - immunodeficiency (Orphanet:2951)
Absent tibia - polydactyly (Orphanet:988)
Acro-pectoro-renal dysplasia (Orphanet:956)
Acro-renal-ocular syndrome (Orphanet:959)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Apert syndrome (Orphanet:87)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Baller-Gerold syndrome (Orphanet:1225)
Bartsocas-Papas syndrome (Orphanet:1234)
Bowed tibiae - radial anomalies - osteopenia - fractures (Orphanet:3331)
Brachydactyly type A1 (Orphanet:93388)
Camptobrachydactyly (Orphanet:1319)
Cenani-Lenz syndrome (Orphanet:3258)
Congenital absence/hypoplasia of fingers excluding thumb, unilateral (Orphanet:973)
Crossed polysyndactyly (Orphanet:2935)
Diabetic embryopathy (Orphanet:1926)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 13q (Orphanet:1590)
Distal monosomy 17q (Orphanet:1597)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
EEC syndrome (Orphanet:1896)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Fraser syndrome (Orphanet:2052)
Frontometaphyseal dysplasia (Orphanet:1826)
Goldenhar syndrome (Orphanet:374)
Guttmacher syndrome (Orphanet:2957)
Hand-foot-genital syndrome (Orphanet:2438)
Heart-hand syndrome type 2 (Orphanet:1350)
Hirschsprung disease - type D brachydactyly (Orphanet:2150)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Holt-Oram syndrome (Orphanet:392)
Humero-radial synostosis (Orphanet:3265)
Humero-radio-ulnar synostosis (Orphanet:3266)
Hypoplastic tibiae - postaxial polydactyly (Orphanet:3332)
IVIC syndrome (Orphanet:2307)
Juberg-Hayward syndrome (Orphanet:2319)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Laurin-Sandrow syndrome (Orphanet:2378)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Mesoaxial synostotic syndactyly with phalangeal reduction (Orphanet:157801)
Microgastria - limb reduction defect (Orphanet:2538)
Moebius syndrome (Orphanet:570)
Mononen-Karnes-Senac syndrome (Orphanet:2565)
Monosomy 13q14 (Orphanet:1587)
Nager syndrome (Orphanet:245)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Oculofaciocardiodental syndrome (Orphanet:2712)
Okihiro syndrome (Orphanet:93293)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PHAVER syndrome (Orphanet:2876)
Pfeiffer syndrome type 1 (Orphanet:93258)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Poland syndrome (Orphanet:2911)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
RAPADILINO syndrome (Orphanet:3021)
Radial ray hypoplasia - choanal atresia (Orphanet:3026)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Roberts syndrome (Orphanet:3103)
Rothmund-Thomson syndrome (Orphanet:2909)
Rothmund-Thomson syndrome type 2 (Orphanet:221016)
Shoulder and thorax deformity - congenital heart disease (Orphanet:1940)
Sparse hair - short stature - skin anomalies (Orphanet:79132)
Symbrachydactyly of hands and feet (Orphanet:1570)
THUMB DEFORMITY (OMIM:188100)
Thalidomide embryopathy (Orphanet:3312)
Thumb deformity - alopecia - pigmentation anomaly (Orphanet:2251)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
WT limb-blood syndrome (Orphanet:3466)
Wolf-Hirschhorn syndrome (Orphanet:280)
Yunis-Varon syndrome (Orphanet:3472)