Achondrogenesis

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.



Input patient's signs and symptoms


Narrow down the case reports



Total: 43 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.6%)		 20387359
 Antenatal diagnosis of achondrogenesis type II.
Kodandapani S, Ramkumar V.
JNMA J Nepal Med Assoc. 2009;48(174):155-7.
Short neck Micromelia
Achondroplasia Adult Differential Diagnosis Females Fetal Diseases Homo sapiens Pregnancy
1
(59.6%)		 11069003
(3054684)
 Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
Lee HS, Doh JW, Kim CJ, Chi JG.
J Korean Med Sci. 2000;15(5):604-8.
Short neck Micromelia
Achondroplasia Bone and Bones Females Fetal Diseases Homo sapiens Pregnancy Ultrasonography, Prenatal
3
(48.8%)		 1585160
 [Prenatal diagnosis of thanatophoric dwarfism].
Gerihauser H, Schuster C, Immervoll H, Sochor G.
Ultraschall Med. 1992;13(1):41-5.
Macrocephaly Polydactyly
Adult Females Femur Homo sapiens Infant, Newborn Lung Pregnancy Pregnancy Trimester, Third Thanatophoric Dysplasia Ultrasonography, Prenatal
4
(48.3%)		 3799721
 de la Chapelle dysplasia.
Whitley CB, Burke BA, Granroth G, Gorlin RJ.
Am J Med Genet. 1986;25(1):29-39.
Laryngeal stenosis Micromelia Small hand
Belgium Differential Diagnosis Females Finland Genes, Recessive Homo sapiens Infant, Newborn Male Osteochondrodysplasias Phenotype
5
(45.7%)		 29681641
 New subtype of familial achondrogenesis type IA (Houston-Harris).
Ramirez-Garcia SA, Garcia-Cruz D, Cervantes-Aragon I, Bitar-Alatorre WE, Davalos-Rodriguez IP, Davalos-Rodriguez NO, Corona-Rivera JR, Sanchez-Corona J.
Cir Cir. 2018;86(1):89-98.
Narrow chest Micromelia
Achondroplasia Cartilage Fatal Outcome Females Femur Germ-Line Mutation Homo sapiens Infant, Newborn Infant, Premature, Diseases Phenotype Polyhydramnios Pregnancy Preterm Infant
5
(45.7%)		 25823796
 Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.
Heinrich T, Nanda I, Rehn M, Zollner U, Ernestus K, Wirth C, Schluter G, Schmid M, Kunstmann E.
Cytogenet Genome Res. 2015;145(1):25-8.
Skeletal dysplasia Micromelia
COL2A1
c|SUB|G|1529|A p|SUB|G|510|D
Achondroplasia Females Genetic Counseling Homo sapiens Hydrops Fetalis Mutation Pregnancy
5
(45.7%)		 23956106
 The phenotype range of achondrogenesis 1A.
Grigelioniene G, Geiberger S, Papadogiannakis N, Makitie O, Nishimura G, Nordgren A, Conner P.
Am J Med Genet A. 2013;161A(10):2554-8.
Beaded ribs Micromelia
TRIP11
Achondroplasia Cytoskeletal Proteins Diagnostic Imaging Females Genotype Homo sapiens Infant, Newborn Male Mutation Nuclear Proteins Phenotype
5
(45.7%)		 19094214
(2615762)
 Prenatal diagnosis of achondrogenesis type I: a case report.
Taner MZ, Kurdoglu M, Taskiran C, Onan MA, Gunaydin G, Himmetoglu O.
Cases J. 2008;1(1):406.
Micromelia
5
(45.7%)		 15054848
 Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G.
Am J Med Genet A. 2004;126A(3):308-12.
Micromelia
COL2A1
c|SUB|G|1340|A;RS#:121912888 p|SUB|G|316|D;RS#:121912888 rs121912888
Achondroplasia Adult DNA Mutational Analysis Females Fetal Diseases Germ Cells Homo sapiens Male Mosaicism Mutation
5
(45.7%)		 8798967
 Achondrogenesis type II (Langer-Saldino)--a case report.
Swar MO, Srikrishna BV.
Afr J Med Med Sci. 1995;24(3):297-9.
Protuberant abdomen Micromelia
Achondroplasia Differential Diagnosis Fetal Death Homo sapiens Infant, Newborn Male
        

Phenotype(s) retrieved from Orphanet

    Total: 23

HPO ID Term Frequency
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000474 Thickened nuchal skin fold Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0001789 Hydrops fetalis Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0003336 Abnormal enchondral ossification Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004348 Abnormality of bone mineral density Very frequent (99-80%)
HP:0006703 Aplasia/Hypoplasia of the lungs Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0000476 Cystic hygroma Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 16

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 7
HP:0002983 Micromelia 5
HP:0002655 Spondyloepiphyseal dysplasia 3
HP:0005716 Lethal skeletal dysplasia 3
HP:0001561 Polyhydramnios 2
HP:0010442 Polydactyly 2
HP:0000476 Cystic hygroma 1
HP:0000773 Short ribs 1
HP:0000774 Narrow chest 1
HP:0000923 Beaded ribs 1
HP:0001623 Breech presentation 1
HP:0002651 Spondyloepimetaphyseal dysplasia 1
HP:0002676 Cloverleaf skull 1
HP:0003026 Short long bone 1
HP:0004322 Short stature 1
HP:0100259 Postaxial polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID