Acromicric dysplasia

A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.



Input patient's signs and symptoms


Narrow down the case reports



Total: 13 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(50.3%)		 7493737
 [The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type].
Cantu JM.
Gac Med Mex. 1995;131(1):23-6; discussion 27.
Blepharophimosis Hypoplastic pelvis
Adult Child Females Homo sapiens Male Osteochondrodysplasias Syndrome
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
3
(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
4
(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
5
(34.8%)		 24339047
 Orthopedics management of acromicric dysplasia: follow up of nine patients.
Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V.
Am J Med Genet A. 2014;164A(2):331-7.
Hip dysplasia Hyperlordosis Cone-shaped epiphysis Internal notch of the femoral head
FBN1
Adult Bone Diseases, Developmental Bone and Bones Child Child, Preschool Females Fibrillins Follow-Up Studies Heterozygote Homo sapiens Limb Deformities, Congenital Male Microfilament Proteins Middle Aged Mutation Orthopedic Procedures Orthopedics Young Adult
6
(29.2%)		 27245183
(5135661)
 Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM, Andrew M, Hwa V, Dauber A, Jorge AA.
Horm Res Paediatr. 2016;86(5):342-348.
Hip dysplasia
FBN1
c|SUB|C|5183|T p|SUB|A|1728|V
Adult Amino Acid Substitution Bone Diseases, Developmental Child Child, Preschool Exome Females Growth Disorders Homo sapiens Infant Limb Deformities, Congenital Male Missense Mutation
7
(23.3%)		 26875674
(4753669)
 Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
Reyes-Hernandez OD, Palacios-Reyes C, Chavez-Ocana S, Cortes-Malagon EM, Alonso-Themann PG, Ramos-Cano V, Ramirez-Bello J, Sierra-Martinez M.
BMC Musculoskelet Disord. 2016;17:79.
Tall stature Pectus excavatum
FBN1
p|SUB|R|2726|W;RS#:61746008 rs61746008
Bone Diseases, Developmental Females Fibrillins Heterozygote Homo sapiens Male Marfan Syndrome Microfilament Proteins Sibling
8
(21.2%)		 25142510
 Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
Wang Y, Zhang H, Ye J, Han L, Gu X.
J Hum Genet. 2014;59(10):563-7.
Ectopia lentis Skeletal dysplasia
ADAMTSL2 FBN1
c|SUB|A|5189|T c|SUB|G|5198|A c|SUB|G|5198|T c|SUB|G|5243|T p|SUB|C|1733|F p|SUB|C|1733|Y p|SUB|C|1748|F p|SUB|C|1748|R p|SUB|N|1730|I
Bone Diseases, Developmental Child Child, Preschool China DNA Mutational Analysis Females Fibrillins Homo sapiens Infant Infant, Newborn Limb Deformities, Congenital Male Microfilament Proteins Missense Mutation Pregnancy Tertiary Protein Structure
8
(21.2%)		 23027497
 Bilateral carpal tunnel syndrome in a 9-year-old boy with acromicric dysplasia.
Buluc L, Selek O, Aranay Y.
Orthopedics. 2012;35(10):e1553-5.
Skeletal dysplasia
GH1
Bone Diseases, Developmental Carpal Tunnel Syndrome Child Homo sapiens Limb Deformities, Congenital Male
8
(21.2%)		 16105694
 Subglottic stenosis in short-statured children: a case for further investigation of airway symptoms in patients with skeletal dysplasias.
Lee JH, Ellison JW, Schears GJ, Thompson DM.
Int J Pediatr Otorhinolaryngol. 2006;70(1):147-53.
Subglottic stenosis Skeletal dysplasia
Bone Diseases, Developmental Bronchoscopy Dwarfism Females Fluoroscopy Homo sapiens Infant Laryngoscopy Laryngostenosis Larynx Reconstructive Surgical Procedures Trachea
        

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000311 Round face Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000527 Long eyelashes Very frequent (99-80%)
HP:0000534 Abnormal eyebrow morphology Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000179 Thick lower lip vermilion Frequent (79-30%)
HP:0000414 Bulbous nose Frequent (79-30%)
HP:0000762 Decreased nerve conduction velocity Frequent (79-30%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001609 Hoarse voice Occasional (29-5%)
HP:0002750 Delayed skeletal maturation Occasional (29-5%)
HP:0002823 Abnormality of femur morphology Occasional (29-5%)
HP:0003300 Ovoid vertebral bodies Occasional (29-5%)
HP:0005900 Fifth metacarpal with ulnar notch Occasional (29-5%)
HP:0005930 Abnormality of epiphysis morphology Occasional (29-5%)
HP:0010049 Short metacarpal Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 12

HPO ID Term # of case reports
HP:0004322 Short stature 4
HP:0002652 Skeletal dysplasia 2
HP:0001083 Ectopia lentis 1
HP:0001607 Subglottic stenosis 1
HP:0001634 Mitral valve prolapse 1
HP:0002098 Respiratory distress 1
HP:0002240 Hepatomegaly 1
HP:0003510 Severe short stature 1
HP:0010579 Cone-shaped epiphysis 1
HP:0010884 Acromelia 1
HP:0030961 Microspherophakia 1
HP:0031027 Internal notch of the femoral head 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
FBN1 fibrillin 1 2200
LTBP3 latent transforming growth factor beta binding protein 3 4054