Aplasia of the fingers

Symptom Information:

Symptom ID: HPO:0009380
Synonyms:
Absent fingers [HPO:0009380]
Absent finger [Orphanet:20540]
Absent finger (disorder) [Orphanet:20540]
Oligodactyly/ectrodactyly of fingers [Orphanet:20540]
Oligodactyly [Orphanet:20540]
Adactyly [MedDRA:10049207]
Oligodactyly [MedDRA:10049207]
Oligodactyly (45%) [OMIM:Oligodactyly (45%)]
Quality:
Cross references:
HPO:0001171 "Ectrodactyly (hands)" [Orphanet:20540]
HPO:0001180 "Oligodactyly (hands)" [Orphanet:20540]
Orphanet:20540 "Oligodactyly/ectrodactyly of fingers" [Orphanet:20540]
OMIM: "Oligodactyly (45%)" [OMIM:Oligodactyly (45%)]
UMLS:C0728895 "Absent finger" [Orphanet:20540]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of fingers
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
Orphanet Abnormality of the hand
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)
             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 of the fingers(HPO:0009380)
             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 of the fingers(HPO:0009380)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia of the fingers(HPO:0009380)
                   Abnormality of the upper limb(HPO:0002817)
                      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 of the fingers(HPO:0009380)
                      Abnormality of the hand(HPO:0001155)
                         Abnormality of finger(HPO:0001167)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia of the fingers(HPO:0009380)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia of the fingers(HPO:0009380)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381)
          Aplasia of the fingers(HPO:0009380)
Database Frequency: 51 / 7739
Resource:

All diseases associated with this symptom:

2q31.1 microdeletion syndrome (Orphanet:251014)
Acro-pectoro-renal dysplasia (Orphanet:956)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Amniotic bands (Orphanet:1034)
Angio-osteohypertrophic syndrome (Orphanet:2346)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Baller-Gerold syndrome (Orphanet:1225)
Cantrell pentalogy (Orphanet:1335)
Cenani-Lenz syndrome (Orphanet:3258)
Charlie M syndrome (Orphanet:1406)
Cooks syndrome (Orphanet:1487)
Cornelia de Lange syndrome (Orphanet:199)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
EEC syndrome (Orphanet:1896)
EEM syndrome (Orphanet:1897)
Ectodermal dysplasia syndrome (Orphanet:79373)
Ectrodactyly - polydactyly (Orphanet:1892)
Femur-fibula-ulna complex (Orphanet:2019)
Fibular aplasia - ectrodactyly (Orphanet:1118)
Focal dermal hypoplasia (Orphanet:2092)
Fuhrmann syndrome (Orphanet:2854)
Gollop-Wolfgang complex (Orphanet:1986)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hypoglossia - hypodactyly (Orphanet:989)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Karsch-Neugebauer syndrome (Orphanet:2329)
Limb transversal defect - cardiac anomaly (Orphanet:2492)
Microgastria - limb reduction defect (Orphanet:2538)
Microphthalmia with limb anomalies (Orphanet:1106)
Mirror polydactyly - vertebral segmentation - limbs defects (Orphanet:3004)
Mullerian duct anomalies - limb anomalies (Orphanet:2491)
Orofaciodigital syndrome type 10 (Orphanet:2756)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Phocomelia, Schinzel type (Orphanet:2879)
Poland syndrome (Orphanet:2911)
Postaxial tetramelic oligodactyly (Orphanet:2730)
Radius absent - anogenital anomalies (Orphanet:3016)
Ring chromosome 4 (Orphanet:1447)
Shoulder and thorax deformity - congenital heart disease (Orphanet:1940)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Split hand-split foot malformation (Orphanet:2440)
Tetramelic monodactyly (Orphanet:2564)
Thalidomide embryopathy (Orphanet:3312)
Tibial aplasia - ectrodactyly (Orphanet:3329)
Triphalangeal thumbs - brachyectrodactyly (Orphanet:2947)
Trisomy 13 (Orphanet:3378)
Ulnar hypoplasia - split foot (Orphanet:1122)
Ulnar-mammary syndrome (Orphanet:3138)
Ulnar/fibula ray defect - brachydactyly (Orphanet:52056)