Geleophysic dysplasia

A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').



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Narrow down the case reports



Total: 25 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 28917829
 A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y.
Eur J Med Genet. 2017;60(12):685-689.
Full cheeks Small hand
FBN1 GH1
c|SUB|A|234-2|G;RS#:775621284 c|SUB|G|340|A;RS#:113994123 p|SUB|E|114|K;RS#:113994123
ADAMTS Proteins Bone Diseases, Developmental Child, Preschool Growth Hormone Heterozygote Homo sapiens Limb Deformities, Congenital Male Missense Mutation RNA Splicing
2
(48.2%)		 28077185
 Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.
Rama G, Chung WK, Cunniff CM, Krishnan U.
Cardiol Young. 2017;27(4):797-800.
Skeletal dysplasia Small hand
Bone Diseases, Developmental Child Echocardiography Females Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Mitral Valve Mitral Valve Stenosis Pregnancy Ultrasonography, Prenatal
2
(48.2%)		 24214363
 Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V.
Am J Med Genet A. 2013;161A(12):3130-2.
Ectopia lentis Small hand
ADAMTS10 ADAMTS17 ADAMTSL2 FBN1 TGFB1
c|SUB|A|IVS8-2|G c|SUB|G|IVS14-7|A
ADAM Proteins ADAMTS Proteins Adult Bone Diseases, Developmental Differential Diagnosis Dwarfism Females Fibrillins Homo sapiens Limb Deformities, Congenital Microfilament Proteins Point Mutation
2
(48.2%)		 9295082
 Patients with geleophysic dysplasia are not always geleophysic.
Santolaya JM, Groninga LC, Delgado A, Monasterio JL, Camarero C, Bilbao FJ.
Am J Med Genet. 1997;72(1):85-90.
Short stature Small hand
Child Facies Gait Homo sapiens Limb Deformities, Congenital Liver Cirrhosis Male Phenotype Skin Abnormalities
2
(48.2%)		 6507494
 Familial recurrence of geleophysic dysplasia.
Koiffmann CP, Wajntal A, Ursich MJ, Pupo AA.
Am J Med Genet. 1984;19(3):483-6.
Hepatomegaly Small hand
Child Congenital Foot Deformity Congenital Hand Deformities Dermatoglyphics Dwarfism Females Homo sapiens Syndrome
6
(45.7%)		 24192049
 Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.
Elhoury ME, Faqeih E, Almoukirish AS, Galal MO.
Cardiol Young. 2015;25(1):81-6.
Skeletal dysplasia Micromelia
Atrial Septal Defects Bone Diseases, Developmental Child Child, Preschool Echocardiography Females Homo sapiens Infant Limb Deformities, Congenital Male Mitral Valve Insufficiency Phenotype Saudi Arabia Sibling Tricuspid Valve Insufficiency
7
(43.6%)		 27935852
 Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.
Hasegawa K, Numakura C, Tanaka H, Furujo M, Kubo T, Higuchi Y, Yamashita M, Tsukahara H.
J Pediatr Endocrinol Metab. 2017;30(1):117-121.
Respiratory distress Acromelia
FBN1
p|SUB|G|1762|S;RS#:387906623 p|SUB|S|1750|R p|SUB|Y|1699|C;RS#:387906622
Bone Diseases, Developmental Child Child, Preschool Females Hepatomegaly Homo sapiens Japan Limb Deformities, Congenital Male Mutation
8
(39.3%)		 30887145
 Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
Intarak N, Theerapanon T, Thaweesapphithak S, Suphapeetiporn K, Porntaveetus T, Shotelersuk V.
Mol Genet Genomics. 2019;294(3):773-787.
Skeletal dysplasia Multiple unerupted teeth
LTBP3
c|SUB|A|1721-2|G c|SUB|G|2017|T p|SUB|G|673|C
Amino Acid Sequence Bone Diseases, Developmental Child Dwarfism Females Genetic Association Studies Homo sapiens Latent TGF-beta Binding Proteins Limb Deformities, Congenital Male Mutation Sequence Homology, Amino Acid Tooth Abnormalities Young Adult
9
(35.3%)		 11943981
 Perthes-like changes in geleophysic dysplasia.
Keret D, Lokiec F, Hayek S, Segev E, Ezra E.
J Pediatr Orthop B. 2002;11(2):100-3.
Brachydactyly
Child Congenital Dysplasia Of The Hip Follow-Up Studies Homo sapiens Legg-Calve-Perthes Disease Male
9
(35.3%)		 10440835
 Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.
Titomanlio L, Della Casa R, Lecora M, Farina V, Sebastio G, Andria G, Parenti G.
Am J Med Genet. 1999;86(1):82-5.
Brachydactyly
Child Face Follow-Up Studies Genes, Recessive Homo sapiens Male
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 15

HPO ID Term # of case reports
HP:0004322 Short stature 6
HP:0001083 Ectopia lentis 2
HP:0002240 Hepatomegaly 2
HP:0002652 Skeletal dysplasia 2
HP:0002777 Tracheal stenosis 2
HP:0003510 Severe short stature 2
HP:0030961 Microspherophakia 2
HP:0200055 Small hand 2
HP:0000501 Glaucoma 1
HP:0001156 Brachydactyly 1
HP:0001376 Limitation of joint mobility 1
HP:0001634 Mitral valve prolapse 1
HP:0002098 Respiratory distress 1
HP:0010884 Acromelia 1
HP:0012109 Angle closure glaucoma 1


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
FBN1 fibrillin 1 2200
ADAMTSL2 ADAMTS like 2 9719
LTBP3 latent transforming growth factor beta binding protein 3 4054