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Narrow pelvis bone

MedGen UID:
336266
Concept ID:
C1848103
Finding
Synonym: Narrow pelvis
 
HPO: HP:0003275

Definition

Reduced side to side width of the pelvis. [from HPO]

Conditions with this feature

Microcephalic osteodysplastic primordial dwarfism type II
MedGen UID:
96587
Concept ID:
C0432246
Disease or Syndrome
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII), the most common form of microcephalic primordial dwarfism, is characterized by extreme short stature and microcephaly along with distinctive facial features. Associated features that differentiate it from other forms of primordial dwarfism and that may necessitate treatment include: abnormal dentition, a slender bone skeletal dysplasia with hip deformity and/or scoliosis, insulin resistance / diabetes mellitus, chronic kidney disease, cardiac malformations, and global vascular disease. The latter includes neurovascular disease such as moyamoya vasculopathy and intracranial aneurysms (which can lead to strokes), coronary artery disease (which can lead to premature myocardial infarctions), and renal vascular disease. Hypertension, which is also common, can have multiple underlying causes given the complex comorbidities.
Epiphyseal dysplasia, Baumann type
MedGen UID:
322764
Concept ID:
C1835830
Disease or Syndrome
Eiken syndrome
MedGen UID:
325097
Concept ID:
C1838779
Congenital Abnormality
Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.
Diaphanospondylodysostosis
MedGen UID:
374993
Concept ID:
C1842691
Disease or Syndrome
Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010).
X-linked spondyloepimetaphyseal dysplasia
MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses.
Thoracolaryngopelvic dysplasia
MedGen UID:
349978
Concept ID:
C1861197
Disease or Syndrome
A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant.
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
MedGen UID:
400731
Concept ID:
C1865294
Disease or Syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
MedGen UID:
422448
Concept ID:
C2936791
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
MedGen UID:
1800305
Concept ID:
C5568882
Disease or Syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.

Professional guidelines

PubMed

Hernando MF, Cerezal L, Pérez-Carro L, Canga A, González RP
Skeletal Radiol 2016 Jun;45(6):771-87. Epub 2016 Mar 3 doi: 10.1007/s00256-016-2354-2. PMID: 26940209
Olivieri I, Gemignani G, Camerini E, Semeria R, Christou C, Giustarini S, Pasero G
J Rheumatol 1990 Nov;17(11):1504-12. PMID: 2273492
HUDDLESTON OL
Calif Med 1958 Nov;89(5):318-21. PMID: 13585155Free PMC Article

Recent clinical studies

Etiology

Mills ES, Talehakimi A, Urness M, Wang JC, Piple AS, Chung BC, Tezuka T, Heckmann ND
Bone Joint J 2023 May 1;105-B(5):496-503. doi: 10.1302/0301-620X.105B5.BJJ-2022-0945.R1. PMID: 37121593
Vučinić N, Paulsen F, Milinkov M, Nikolić MB, Todorović ST, Knezi N, Nikolić U
Ann Anat 2022 Aug;243:151942. Epub 2022 Apr 2 doi: 10.1016/j.aanat.2022.151942. PMID: 35378253
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G
Jpn J Radiol 2020 Mar;38(3):193-206. Epub 2020 Jan 21 doi: 10.1007/s11604-020-00920-w. PMID: 31965514
Stevenson JD, Laitinen MK, Parry MC, Sumathi V, Grimer RJ, Jeys LM
Eur J Surg Oncol 2018 Sep;44(9):1412-1418. Epub 2018 Jun 8 doi: 10.1016/j.ejso.2018.05.033. PMID: 29929901
Saltychev M, Pernaa K, Seppänen M, Mäkelä K, Laimi K
Acta Orthop 2018 Feb;89(1):66-70. Epub 2017 Sep 15 doi: 10.1080/17453674.2017.1377017. PMID: 28914101Free PMC Article

Diagnosis

Vučinić N, Paulsen F, Milinkov M, Nikolić MB, Todorović ST, Knezi N, Nikolić U
Ann Anat 2022 Aug;243:151942. Epub 2022 Apr 2 doi: 10.1016/j.aanat.2022.151942. PMID: 35378253
Chen YW, Aikebaier AIERKEN, Zhao Y
J Orthop Surg Res 2020 Oct 26;15(1):493. doi: 10.1186/s13018-020-01912-2. PMID: 33106164Free PMC Article
Stevenson JD, Laitinen MK, Parry MC, Sumathi V, Grimer RJ, Jeys LM
Eur J Surg Oncol 2018 Sep;44(9):1412-1418. Epub 2018 Jun 8 doi: 10.1016/j.ejso.2018.05.033. PMID: 29929901
Hernando MF, Cerezal L, Pérez-Carro L, Canga A, González RP
Skeletal Radiol 2016 Jun;45(6):771-87. Epub 2016 Mar 3 doi: 10.1007/s00256-016-2354-2. PMID: 26940209
Newman DE, Dunbar JC
J Can Assoc Radiol 1975 Jun;26(2):95-103. PMID: 1158967

Therapy

Morris WZ, Justo PGS, Williams KA, Kim YJ, Millis MB, Novais EN
Bone Joint J 2022 Sep;104-B(9):1017-1024. doi: 10.1302/0301-620X.104B9.BJJ-2021-1391.R3. PMID: 36047021
Carender CN, Feuchtenberger BW, DeMik DE, An Q, Brown TS, Bedard NA
J Arthroplasty 2022 Mar;37(3):507-512. Epub 2021 Nov 27 doi: 10.1016/j.arth.2021.11.032. PMID: 34843911
Bearrick EN, Findlay BL, Boswell TC, Hebert KJ, Viers BR
Curr Opin Urol 2021 Sep 1;31(5):521-530. doi: 10.1097/MOU.0000000000000911. PMID: 34175873
Chang Y, Yuan Y, Guo C, Wang Y, Cheng Y, Tamura S
IEEE J Biomed Health Inform 2019 May;23(3):1192-1204. Epub 2018 May 9 doi: 10.1109/JBHI.2018.2834551. PMID: 29993902
de Wardener HE, MacGregor GA
J Hum Hypertens 2002 Apr;16(4):213-23. doi: 10.1038/sj.jhh.1001374. PMID: 11967714

Prognosis

Mills ES, Talehakimi A, Urness M, Wang JC, Piple AS, Chung BC, Tezuka T, Heckmann ND
Bone Joint J 2023 May 1;105-B(5):496-503. doi: 10.1302/0301-620X.105B5.BJJ-2022-0945.R1. PMID: 37121593
Morris WZ, Justo PGS, Williams KA, Kim YJ, Millis MB, Novais EN
Bone Joint J 2022 Sep;104-B(9):1017-1024. doi: 10.1302/0301-620X.104B9.BJJ-2021-1391.R3. PMID: 36047021
Vučinić N, Paulsen F, Milinkov M, Nikolić MB, Todorović ST, Knezi N, Nikolić U
Ann Anat 2022 Aug;243:151942. Epub 2022 Apr 2 doi: 10.1016/j.aanat.2022.151942. PMID: 35378253
Pavličev M, Romero R, Mitteroecker P
Am J Obstet Gynecol 2020 Jan;222(1):3-16. Epub 2019 Jun 25 doi: 10.1016/j.ajog.2019.06.043. PMID: 31251927Free PMC Article
Stevenson JD, Laitinen MK, Parry MC, Sumathi V, Grimer RJ, Jeys LM
Eur J Surg Oncol 2018 Sep;44(9):1412-1418. Epub 2018 Jun 8 doi: 10.1016/j.ejso.2018.05.033. PMID: 29929901

Clinical prediction guides

Mills ES, Talehakimi A, Urness M, Wang JC, Piple AS, Chung BC, Tezuka T, Heckmann ND
Bone Joint J 2023 May 1;105-B(5):496-503. doi: 10.1302/0301-620X.105B5.BJJ-2022-0945.R1. PMID: 37121593
Dzupa V, Konarik M, Knize J, Veleminsky P, Vranova J, Baca V, Kachlik D
Ann Anat 2021 Sep;237:151749. Epub 2021 Apr 30 doi: 10.1016/j.aanat.2021.151749. PMID: 33940120
Pavličev M, Romero R, Mitteroecker P
Am J Obstet Gynecol 2020 Jan;222(1):3-16. Epub 2019 Jun 25 doi: 10.1016/j.ajog.2019.06.043. PMID: 31251927Free PMC Article
Stevenson JD, Laitinen MK, Parry MC, Sumathi V, Grimer RJ, Jeys LM
Eur J Surg Oncol 2018 Sep;44(9):1412-1418. Epub 2018 Jun 8 doi: 10.1016/j.ejso.2018.05.033. PMID: 29929901
Betti L
Anat Rec (Hoboken) 2017 Apr;300(4):687-697. doi: 10.1002/ar.23542. PMID: 28297180

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