Disproportionate tall stature

Symptom Information:

Symptom ID: HPO:0001519
Synonyms:
Dolichostenomelia [HPO:0001519]
Marfanoid body habitus [HPO:0001519]
Marfanoid habitus [HPO:0001519]
Reduced upper-lower segment ratio [HPO:0001519]
Marfanoid habitus [Orphanet:53800]
Long limb [Orphanet:18320]
Arachnodactyly (disorder) [Orphanet:18320]
Dolichostenomelia [OMIM:Dolichostenomelia]
Marfanoid body habitus [OMIM:Marfanoid body habitus]
Marfanoid habitus [OMIM:Marfanoid habitus]
Reduced upper-lower segment ratio [OMIM:Reduced upper-lower segment ratio]
Marfanoid morphotype [Orphanet:53800]
Long limbs/dolichostenomelia [Orphanet:18320]
Arachnodactyly (in some patients) [OMIM:Arachnodactyly (in some patients)]
Dolichostenomelia (uncommon) [OMIM:Dolichostenomelia (uncommon)]
Long limbs [OMIM:Long limbs]
Arachnodactyly [MedDRA:10063847]
Quality:
Cross references:
Orphanet:53800 "Marfanoid morphotype" [Orphanet:53800]
Orphanet:18320 "Long limbs/dolichostenomelia" [Orphanet:18320]
OMIM: "Dolichostenomelia" [OMIM:Dolichostenomelia]
OMIM: "Marfanoid body habitus" [OMIM:Marfanoid body habitus]
OMIM: "Marfanoid habitus" [OMIM:Marfanoid habitus]
OMIM: "Reduced upper-lower segment ratio" [OMIM:Reduced upper-lower segment ratio]
OMIM: "Arachnodactyly (in some patients)" [OMIM:Arachnodactyly (in some patients)]
OMIM: "Dolichostenomelia (uncommon)" [OMIM:Dolichostenomelia (uncommon)]
OMIM: "Long limbs" [OMIM:Long limbs]
UMLS:C0003706 "Dolichostenomelia" [HPO:0001519]
Is a (Direct Parents):
Orphanet Aplasia/hypoplasia of the extremities
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
Orphanet Build/stature/longevity anomalies
HPO         Tall stature
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Growth abnormality(HPO:0001507)
          Abnormality of body height(HPO:0000002)
             Tall stature(HPO:0000098)
                Disproportionate tall stature(HPO:0001519)
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)
          Disproportionate tall stature(HPO:0001519)
Database Frequency: 39 / 7739
Resource:

All diseases associated with this symptom:

ALPHA-2-DEFICIENT COLLAGEN DISEASE (OMIM:203760)
BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Brittle cornea syndrome (Orphanet:90354)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CK syndrome (Orphanet:251383)
Camurati-Engelmann disease (Orphanet:1328)
Classical homocystinuria (Orphanet:394)
Cockayne syndrome (Orphanet:191)
Congenital contractural arachnodactyly (Orphanet:115)
Cranio-osteoarthropathy (Orphanet:1525)
Cutis laxa-Marfanoid syndrome (Orphanet:171719)
EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC (OMIM:227200)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
Hydrocephaly - tall stature - joint laxity (Orphanet:2181)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit, X-linked, Raymond type (Orphanet:163953)
Isolated ectopia lentis (Orphanet:1885)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
MARFANOID HABITUS WITH SITUS INVERSUS (OMIM:609008)
MASS SYNDROME (OMIM:604308)
Marfan syndrome (Orphanet:558)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Microcephaly - glomerulonephritis - marfanoid habitus (Orphanet:2172)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Polyvalvular heart disease syndrome (Orphanet:228410)
STICKLER SYNDROME, TYPE I (OMIM:108300)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Van den Ende-Gupta syndrome (Orphanet:2460)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)