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Hypoplasia of the femoral head

MedGen UID:
384014
Concept ID:
C1856920
Anatomical Abnormality; Finding
Synonyms: Hypoplasia of the femoral heads; Hypoplastic femoral head; Small femoral heads
 
HPO: HP:0008802

Definition

Underdevelopment of the femoral head. [from HPO]

Conditions with this feature

Hurler syndrome
MedGen UID:
39698
Concept ID:
C0086795
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.
Epiphyseal dysplasia, Baumann type
MedGen UID:
322764
Concept ID:
C1835830
Disease or Syndrome
Multiple epiphyseal dysplasia type 4
MedGen UID:
376164
Concept ID:
C1847593
Disease or Syndrome
Recessive multiple epiphyseal dysplasia (EDM4/rMED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have an abnormal finding at birth, e.g., clubfoot, clinodactyly, or (rarely) cystic ear swelling. Onset of articular pain is variable but usually occurs in late childhood. Stature is usually within the normal range prior to puberty; in adulthood, stature is only slightly diminished and ranges from 150 to 180 cm. Functional disability is mild.
Immunodeficiency 27A
MedGen UID:
860386
Concept ID:
C4011949
Disease or Syndrome
Immunodeficiency-27A (IMD27A) results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (147570), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).
Senior-Loken syndrome 9
MedGen UID:
899086
Concept ID:
C4225263
Disease or Syndrome
Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see 266900.
Anauxetic dysplasia 2
MedGen UID:
1384439
Concept ID:
C4479357
Disease or Syndrome
Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).
Rhizomelic dysplasia, Ain-Naz type
MedGen UID:
1794223
Concept ID:
C5562013
Disease or Syndrome
The Ain-Naz type of rhizomelic dysplasia (RHZDAN) is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height (Ain et al., 2021).

Professional guidelines

PubMed

Salomon LJ, Alfirevic Z, Da Silva Costa F, Deter RL, Figueras F, Ghi T, Glanc P, Khalil A, Lee W, Napolitano R, Papageorghiou A, Sotiriadis A, Stirnemann J, Toi A, Yeo G
Ultrasound Obstet Gynecol 2019 Jun;53(6):715-723. doi: 10.1002/uog.20272. PMID: 31169958
Ciofalo A, Gulotta G, Iannella G, Pasquariello B, Manno A, Angeletti D, Pace A, Greco A, Altissimi G, de Vincentiis M, Magliulo G
Curr Rheumatol Rev 2019;15(4):259-268. doi: 10.2174/1573397115666190227194014. PMID: 30827250
Zalavras CG, Lieberman JR
J Am Acad Orthop Surg 2014 Jul;22(7):455-64. doi: 10.5435/JAAOS-22-07-455. PMID: 24966252

Recent clinical studies

Etiology

Zhang S, Doudoulakis KJ, Khurwal A, Sarraf KM
Br J Hosp Med (Lond) 2020 Jul 2;81(7):1-8. Epub 2020 Jul 6 doi: 10.12968/hmed.2020.0223. PMID: 32730146
Salomon LJ, Alfirevic Z, Da Silva Costa F, Deter RL, Figueras F, Ghi T, Glanc P, Khalil A, Lee W, Napolitano R, Papageorghiou A, Sotiriadis A, Stirnemann J, Toi A, Yeo G
Ultrasound Obstet Gynecol 2019 Jun;53(6):715-723. doi: 10.1002/uog.20272. PMID: 31169958
Achar S, Yamanaka J
Am Fam Physician 2019 May 15;99(10):610-618. PMID: 31083875
Rossi R, Rosso F, Cottino U, Dettoni F, Bonasia DE, Bruzzone M
Int Orthop 2014 Feb;38(2):273-83. Epub 2013 Dec 24 doi: 10.1007/s00264-013-2227-4. PMID: 24366186Free PMC Article
Ganz R, Parvizi J, Beck M, Leunig M, Nötzli H, Siebenrock KA
Clin Orthop Relat Res 2003 Dec;(417):112-20. doi: 10.1097/01.blo.0000096804.78689.c2. PMID: 14646708

Diagnosis

Zhang S, Doudoulakis KJ, Khurwal A, Sarraf KM
Br J Hosp Med (Lond) 2020 Jul 2;81(7):1-8. Epub 2020 Jul 6 doi: 10.12968/hmed.2020.0223. PMID: 32730146
Chang C, Greenspan A, Gershwin ME
J Autoimmun 2020 Jun;110:102460. Epub 2020 Apr 16 doi: 10.1016/j.jaut.2020.102460. PMID: 32307211
Achar S, Yamanaka J
Am Fam Physician 2019 May 15;99(10):610-618. PMID: 31083875
Ciofalo A, Gulotta G, Iannella G, Pasquariello B, Manno A, Angeletti D, Pace A, Greco A, Altissimi G, de Vincentiis M, Magliulo G
Curr Rheumatol Rev 2019;15(4):259-268. doi: 10.2174/1573397115666190227194014. PMID: 30827250
Ganz R, Parvizi J, Beck M, Leunig M, Nötzli H, Siebenrock KA
Clin Orthop Relat Res 2003 Dec;(417):112-20. doi: 10.1097/01.blo.0000096804.78689.c2. PMID: 14646708

Therapy

Zheng H, Ye B, Huang K, Gao X, Chen W
J Orthop Surg Res 2023 Oct 4;18(1):750. doi: 10.1186/s13018-023-04235-0. PMID: 37794495Free PMC Article
Heckmann ND, Chung BC, Wier JR, Han RB, Lieberman JR
J Arthroplasty 2022 Jul;37(7S):S546-S551. Epub 2022 Feb 18 doi: 10.1016/j.arth.2022.02.028. PMID: 35277310
Chang C, Greenspan A, Gershwin ME
J Autoimmun 2020 Jun;110:102460. Epub 2020 Apr 16 doi: 10.1016/j.jaut.2020.102460. PMID: 32307211
Ciofalo A, Gulotta G, Iannella G, Pasquariello B, Manno A, Angeletti D, Pace A, Greco A, Altissimi G, de Vincentiis M, Magliulo G
Curr Rheumatol Rev 2019;15(4):259-268. doi: 10.2174/1573397115666190227194014. PMID: 30827250
Zizic TM
Curr Opin Rheumatol 1991 Jun;3(3):481-9. doi: 10.1097/00002281-199106000-00023. PMID: 1883703

Prognosis

Ciofalo A, Gulotta G, Iannella G, Pasquariello B, Manno A, Angeletti D, Pace A, Greco A, Altissimi G, de Vincentiis M, Magliulo G
Curr Rheumatol Rev 2019;15(4):259-268. doi: 10.2174/1573397115666190227194014. PMID: 30827250
Mansour E, Eid R, Romanos E, Ghanem I
J Pediatr Orthop B 2017 Jul;26(4):344-349. doi: 10.1097/BPB.0000000000000358. PMID: 27379671
Zalavras CG, Lieberman JR
J Am Acad Orthop Surg 2014 Jul;22(7):455-64. doi: 10.5435/JAAOS-22-07-455. PMID: 24966252
Rossi R, Rosso F, Cottino U, Dettoni F, Bonasia DE, Bruzzone M
Int Orthop 2014 Feb;38(2):273-83. Epub 2013 Dec 24 doi: 10.1007/s00264-013-2227-4. PMID: 24366186Free PMC Article
Zizic TM
Curr Opin Rheumatol 1991 Jun;3(3):481-9. doi: 10.1097/00002281-199106000-00023. PMID: 1883703

Clinical prediction guides

Iwasa M, Ando W, Uemura K, Hamada H, Takao M, Sugano N
Bone Joint J 2021 Nov;103-B(11):1656-1661. doi: 10.1302/0301-620X.103B11.BJJ-2021-0472.R1. PMID: 34719275
Mansour E, Eid R, Romanos E, Ghanem I
J Pediatr Orthop B 2017 Jul;26(4):344-349. doi: 10.1097/BPB.0000000000000358. PMID: 27379671
Goldstein RY, Kaye ID, Slover J, Feldman D
Bull Hosp Jt Dis (2013) 2014;72(1):28-42. PMID: 25150325
Rossi R, Rosso F, Cottino U, Dettoni F, Bonasia DE, Bruzzone M
Int Orthop 2014 Feb;38(2):273-83. Epub 2013 Dec 24 doi: 10.1007/s00264-013-2227-4. PMID: 24366186Free PMC Article
Zizic TM
Curr Opin Rheumatol 1991 Jun;3(3):481-9. doi: 10.1097/00002281-199106000-00023. PMID: 1883703

Recent systematic reviews

Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M
Am J Med Genet A 2021 Jan;185(1):73-82. Epub 2020 Oct 14 doi: 10.1002/ajmg.a.61912. PMID: 33051983
Novais EN, Hill MK, Carry PM, Heyn PC
Clin Orthop Relat Res 2016 May;474(5):1166-77. doi: 10.1007/s11999-015-4590-5. PMID: 26472583Free PMC Article
Nepple JJ, Vigdorchik JM, Clohisy JC
Am J Sports Med 2015 Nov;43(11):2833-40. Epub 2015 Jan 13 doi: 10.1177/0363546514563909. PMID: 25587186
Palmer SC, McGregor DO, Strippoli GF
Cochrane Database Syst Rev 2007 Jul 18;(3):CD005015. doi: 10.1002/14651858.CD005015.pub3. PMID: 17636784
Shipman SA, Helfand M, Moyer VA, Yawn BP
Pediatrics 2006 Mar;117(3):e557-76. doi: 10.1542/peds.2005-1597. PMID: 16510634

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