Phocomelia

Symptom Information:

Symptom ID: HPO:0009829
Synonyms:
Phocomelia (disorder) [Orphanet:18560]
Absent limbs [Orphanet:18560]
Phocomelia [Orphanet:18560]
Phocomelia [OMIM:Phocomelia]
Limb reduction defect [MedDRA:10024503]
Absence of limbs [MedDRA:10024503]
Absent limb [MedDRA:10024503]
Absent limbs [MedDRA:10024503]
Amelia [MedDRA:10024503]
Ectromelia [MedDRA:10024503]
Ectromelia four limbs [MedDRA:10024503]
Ectromelia one limb [MedDRA:10024503]
Ectromelia three limbs [MedDRA:10024503]
Ectromelia two limbs [MedDRA:10024503]
Hemimelia [MedDRA:10024503]
Limb reduction deformity [MedDRA:10024503]
Longitudinal def, tarsals or metatarsals, complete or partial (with or w/o incomp phalangeal def) [MedDRA:10024503]
Longitudinal deficiency of lower limb, not elsewhere classified [MedDRA:10024503]
Longitudinal deficiency of upper limb, not elsewhere classified [MedDRA:10024503]
Longitudinal deficiency, carp or metacarp, complete or partial (with or w/o incomp phalangeal def) [MedDRA:10024503]
Longitudinal deficiency, combined, involving femur, tibia, and fibula (complete or incomplete) [MedDRA:10024503]
Longitudinal deficiency, combined, involving humerus, radius, and ulna (complete or incomplete) [MedDRA:10024503]
Longitudinal deficiency, femoral, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, fibular, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, humeral, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, phalanges of foot, complete or partial (with or w/o distal def, incomplete) [MedDRA:10024503]
Longitudinal deficiency, phalanges of hand, complete or partial (with or w/o distal def, incomplete) [MedDRA:10024503]
Longitudinal deficiency, radial, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, radioulnar, complete or partial (with or w/o distal deficiencies, incomp) [MedDRA:10024503]
Longitudinal deficiency, tibia, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, tibiofibular, complete or partial (with or w/o distal deficiencies, incomp) [MedDRA:10024503]
Longitudinal deficiency, ulnar, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Mesomelia [MedDRA:10024503]
Micromelia [MedDRA:10024503]
Phocomelia [MedDRA:10024503]
Reduction deformities of lower limb, congenital [MedDRA:10024503]
Reduction deformities of upper limb, congenital [MedDRA:10024503]
Reduction deformities, unspecified limb, congenital [MedDRA:10024503]
Transverse deficiency of lower limb [MedDRA:10024503]
Transverse deficiency of upper limb [MedDRA:10024503]
Unspecified reduction deformity of lower limb, congenital [MedDRA:10024503]
Unspecified reduction deformity of upper limb, congenital [MedDRA:10024503]
Brachymelia [MedDRA:10024503]
Brachymelia [OMIM:Brachymelia]
Ectromelia [OMIM:Ectromelia]
Hemimelia [OMIM:Hemimelia]
Mesomelia (100%) [OMIM:Mesomelia (100%)]
Mesomelia (upper limbs) [OMIM:Mesomelia (upper limbs)]
Micromelia (1 patient) [OMIM:Micromelia (1 patient)]
Micromelia (especially lower limbs) [OMIM:Micromelia (especially lower limbs)]
Hemimelia [MedDRA:10019464]
Hemimelia (disorder) [Orphanet:18400]
Hemimelia [Orphanet:18400]
Amelia/tetramelia/hemimelia [Orphanet:18400]
Quality:
Cross references:
Orphanet:18560 "Phocomelia" [Orphanet:18560]
Orphanet:18400 "Amelia/tetramelia/hemimelia" [Orphanet:18400]
OMIM: "Phocomelia" [OMIM:Phocomelia]
OMIM: "Brachymelia" [OMIM:Brachymelia]
OMIM: "Ectromelia" [OMIM:Ectromelia]
OMIM: "Hemimelia" [OMIM:Hemimelia]
OMIM: "Mesomelia (100%)" [OMIM:Mesomelia (100%)]
OMIM: "Mesomelia (upper limbs)" [OMIM:Mesomelia (upper limbs)]
OMIM: "Micromelia (1 patient)" [OMIM:Micromelia (1 patient)]
OMIM: "Micromelia (especially lower limbs)" [OMIM:Micromelia (especially lower limbs)]
UMLS:C0031575 "Phocomelia" [HPO:0009829]
UMLS:C0541755 "Absent limbs" [Orphanet:18560]
UMLS:C0031575 "Phocomelia" [Orphanet:18560]
UMLS:C0018987 "Hemimelia" [Orphanet:18400]
Is a (Direct Parents):
Orphanet Aplasia/hypoplasia of the extremities
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
Orphanet Ectromelia/absence of one or more limb segments
Orphanet Micromelia
HPO         Aplasia/hypoplasia of the extremities
HPO         Abnormality of long bone morphology
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)
                      Phocomelia(HPO:0009829)
             Abnormality of long bone morphology(HPO:0011314)
                Phocomelia(HPO:0009829)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Phocomelia(HPO:0009829)
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)
          Phocomelia(HPO:0009829)
Database Frequency: 20 / 7739
Resource:

All diseases associated with this symptom:

Acheiropodia (Orphanet:931)
Autosomal recessive Robinow syndrome (Orphanet:1507)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Cornelia de Lange syndrome (Orphanet:199)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Holt-Oram syndrome (Orphanet:392)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Microgastria - limb reduction defect (Orphanet:2538)
Mirror polydactyly - vertebral segmentation - limbs defects (Orphanet:3004)
Nager syndrome (Orphanet:245)
Ophthalmomandibulomelic dysplasia (Orphanet:2741)
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA (OMIM:263210)
Phocomelia, Schinzel type (Orphanet:2879)
Roberts syndrome (Orphanet:3103)
SC PHOCOMELIA SYNDROME (OMIM:269000)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Thrombocytopenia - absent radius (Orphanet:3320)
Ulbright-Hodes syndrome (Orphanet:3404)
Von Voss-Cherstvoy syndrome (Orphanet:3439)