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Acromicric dysplasia(ACMICD)

MedGen UID:
78549
Concept ID:
C0265287
Congenital Abnormality
Synonyms: ACMICD; Acromicric skeletal dysplasia
SNOMED CT: Acromicric dysplasia (254090007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FBN1 (15q21.1)
 
Monarch Initiative: MONDO:0007055
OMIM®: 102370
Orphanet: ORPHA969

Definition

Acromicric dysplasia (ACMICD) is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (GPHYSD2; 614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328). [from OMIM]

Additional description

From MedlinePlus Genetics
Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.

Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches for women and 4 feet, 5 inches for men. The long bones of the arms and legs, and the bones in the hands and feet, are shorter than would be expected for the individual's height. Other skeletal features that occur in this disorder include slowed mineralization of bone (delayed bone age), abnormally shaped bones of the spine (vertebrae), and constrained movement of joints. Affected individuals often develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. A misalignment of the hip joints (hip dysplasia) can also occur in this disorder. These skeletal and joint problems may require treatment, but most affected individuals have few limitations in their activities.

Children with acromicric dysplasia may have a round face, sharply defined eyebrows, long eyelashes, a bulbous nose with upturned nostrils, a long space between the nose and upper lip (long philtrum), and a small mouth with thick lips. These facial differences become less apparent in adulthood. Intelligence is unaffected in this disorder, and life expectancy is generally normal.  https://medlineplus.gov/genetics/condition/acromicric-dysplasia

Clinical features

From HPO
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Fifth metacarpal with ulnar notch
MedGen UID:
477954
Concept ID:
C3276324
Finding
Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Ovoid vertebral bodies
MedGen UID:
344549
Concept ID:
C1855665
Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
Cone-shaped epiphysis
MedGen UID:
351282
Concept ID:
C1865037
Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Round face
MedGen UID:
116087
Concept ID:
C0239479
Finding
The facial appearance is more circular than usual as viewed from the front.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Thick lower lip vermilion
MedGen UID:
326567
Concept ID:
C1839739
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Deep philtrum
MedGen UID:
374311
Concept ID:
C1839797
Finding
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Thickened skin
MedGen UID:
66024
Concept ID:
C0241165
Finding
Laminar thickening of skin.
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcromicric dysplasia

Professional guidelines

PubMed

Nguyen DB, Khirani S, Griffon L, Baujat G, Michot C, Marzin P, Rondeau S, Luscan R, Couloigner V, Pejin Z, Zerah M, Cormier-Daire V, Fauroux B
Am J Med Genet A 2021 Jul;185(7):2108-2118. Epub 2021 Apr 28 doi: 10.1002/ajmg.a.62236. PMID: 33908178
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V
Genet Med 2021 Feb;23(2):331-340. Epub 2020 Oct 21 doi: 10.1038/s41436-020-00994-x. PMID: 33082559

Recent clinical studies

Etiology

Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V
Genet Med 2021 Feb;23(2):331-340. Epub 2020 Oct 21 doi: 10.1038/s41436-020-00994-x. PMID: 33082559
Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH
Eur J Med Genet 2018 Apr;61(4):219-224. Epub 2017 Nov 27 doi: 10.1016/j.ejmg.2017.11.018. PMID: 29191498
McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V
J Med Genet 2016 Jul;53(7):457-64. Epub 2016 Apr 11 doi: 10.1136/jmedgenet-2015-103647. PMID: 27068007
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027

Diagnosis

Quitter F, Flury M, Waldmueller S, Schubert T, Koehler K, Huebner A
J Pediatr Endocrinol Metab 2022 Nov 25;35(11):1443-1447. Epub 2022 Aug 9 doi: 10.1515/jpem-2022-0287. PMID: 35942587
Wang T, Yang Y, Dong Q, Zhu H, Liu Y
Mol Genet Genomic Med 2020 Jul;8(7):e1282. Epub 2020 May 14 doi: 10.1002/mgg3.1282. PMID: 32406602Free PMC Article
Hasegawa K, Tanaka H
Pediatr Int 2014 Dec;56(6):809-812. Epub 2014 Nov 28 doi: 10.1111/ped.12511. PMID: 25244068
Hennekam RC, van Bever Y, Oorthuys JW
Eur J Pediatr 1996 Apr;155(4):311-4. doi: 10.1007/BF02002719. PMID: 8777926
Winter RM, Patton MA, Challener J, Mueller RF, Baraitser M
J Med Genet 1989 May;26(5):320-5. doi: 10.1136/jmg.26.5.320. PMID: 2732993Free PMC Article

Therapy

Li D, Dong H, Zheng H, Song J, Li X, Jin Y, Liu Y, Yang Y
Eur J Med Genet 2017 Dec;60(12):685-689. Epub 2017 Sep 14 doi: 10.1016/j.ejmg.2017.09.003. PMID: 28917829
Lee T, Takeshima Y, Okizuka Y, Hamahira K, Kusunoki N, Awano H, Yagi M, Sakai N, Matsuo M, Iijima K
Gene 2013 Jan 10;512(2):456-9. Epub 2012 Nov 2 doi: 10.1016/j.gene.2012.10.060. PMID: 23124041

Prognosis

Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V
Genet Med 2021 Feb;23(2):331-340. Epub 2020 Oct 21 doi: 10.1038/s41436-020-00994-x. PMID: 33082559
Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS
J Biol Chem 2020 Nov 13;295(46):15742-15753. Epub 2020 Sep 10 doi: 10.1074/jbc.RA120.014557. PMID: 32913123Free PMC Article
Hasegawa K, Numakura C, Tanaka H, Furujo M, Kubo T, Higuchi Y, Yamashita M, Tsukahara H
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):117-121. doi: 10.1515/jpem-2016-0258. PMID: 27935852
Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V
Am J Med Genet A 2014 Feb;164A(2):331-7. Epub 2013 Dec 11 doi: 10.1002/ajmg.a.36139. PMID: 24339047
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V
J Med Genet 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745. PMID: 11694546Free PMC Article

Clinical prediction guides

Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS
J Biol Chem 2020 Nov 13;295(46):15742-15753. Epub 2020 Sep 10 doi: 10.1074/jbc.RA120.014557. PMID: 32913123Free PMC Article
Hasegawa K, Tanaka H
Pediatr Int 2014 Dec;56(6):809-812. Epub 2014 Nov 28 doi: 10.1111/ped.12511. PMID: 25244068
Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V
Am J Med Genet A 2014 Feb;164A(2):331-7. Epub 2013 Dec 11 doi: 10.1002/ajmg.a.36139. PMID: 24339047
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V
J Med Genet 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745. PMID: 11694546Free PMC Article

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