Acromesomelic dysplasia, Maroteaux type

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .



Input patient's signs and symptoms


Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(23.3%)		 24249999
(3819856)
 Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia.
Haldar R, Gyanesh P, Samanta S.
J Anaesthesiol Clin Pharmacol. 2013;29(4):555-7.
Hydrocephalus Back pain
NPR2
2
(21.2%)		 30622824
 Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia.
Jacob M, Menon S, Botti C, Marshall I.
Case Rep Endocrinol. 2018;2018:7658496.
Skeletal dysplasia
NPR2
2
(21.2%)		 16384845
 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.
Olney RC, Bukulmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML.
J Clin Endocrinol Metab. 2006;91(4):1229-32.
Skeletal dysplasia
Adult Aged, 80 and over Anthropometry Body Height Body Weight Case-Control Studies Child Child, Preschool DNA Females Genotype Guanylate Cyclase Heterozygote Homo sapiens Insulin-Like Growth Factor I Male Middle Aged Mutation Phenotype Receptors, Atrial Natriuretic Factor
4
(4.0%)		 31077548
 Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.
Tran TH, Cao MH, Luong LH, Le PT, Vu DC, Ta TD, Bui TH, Nguyen DH, Van Ta T, Tran VK.
Am J Med Genet A. 2019;179(8):1420-1422.
Severe short stature
c|SUB|T|152|C p|SUB|L|51|P
Adult Bone Diseases, Developmental Bone and Bones Child Child, Preschool DNA Mutational Analysis Females Gene Expression Heterozygote Homo sapiens Homozygote Male Mutation Phenotype Receptors, Atrial Natriuretic Factor Vietnam
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000912 Sprengel anomaly Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0003086 Acromesomelia Frequent (79-30%)
HP:0003300 Ovoid vertebral bodies Frequent (79-30%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Frequent (79-30%)
HP:0003498 Disproportionate short stature Frequent (79-30%)
HP:0004568 Beaking of vertebral bodies Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0006487 Bowing of the long bones Frequent (79-30%)
HP:0008422 Vertebral wedging Frequent (79-30%)
HP:0011220 Prominent forehead Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0002652 Skeletal dysplasia 2
HP:0003510 Severe short stature 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
NPR2 natriuretic peptide receptor 2 4882