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Decreased skull ossification

MedGen UID:
609330
Concept ID:
C0432073
Congenital Abnormality
Synonyms: Decreased ossification of the skull; Deficient skull ossification; Ossification defect of skull; Poorly mineralized cranium; Poorly mineralized skull; Poorly ossified skull; Poorly ossified skull bones; Skull ossification defect
SNOMED CT: Defect of skull ossification (253980008)
 
HPO: HP:0004331

Definition

A reduction in the magnitude or amount of ossification of the skull. [from HPO]

Conditions with this feature

Achondrogenesis, type IA
MedGen UID:
78546
Concept ID:
C0265273
Congenital Abnormality
The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of Achondrogenesis Achondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (600972), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (200610). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of Achondrogenesis Achondrogenesis type IB (ACG1B; 600972) is caused by mutation in the DTDST gene (606718), and achondrogenesis type II (ACG2; 200610) is caused by mutation in the COL2A1 gene (120140).
Diaphragmatic defect-limb deficiency-skull defect syndrome
MedGen UID:
371377
Concept ID:
C1832668
Disease or Syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.
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).
Gillessen-Kaesbach-Nishimura syndrome
MedGen UID:
376653
Concept ID:
C1849762
Disease or Syndrome
Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).
Autosomal recessive Kenny-Caffey syndrome
MedGen UID:
340923
Concept ID:
C1855648
Disease or Syndrome
A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.
Yunis-Varon syndrome
MedGen UID:
341818
Concept ID:
C1857663
Disease or Syndrome
Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Osteocraniostenosis
MedGen UID:
356331
Concept ID:
C1865639
Disease or Syndrome
Gracile bone dysplasia (GCLEB) is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by Unger et al., 2013).
Osteogenesis imperfecta type 8
MedGen UID:
410075
Concept ID:
C1970458
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.
Greenberg dysplasia
MedGen UID:
418969
Concept ID:
C2931048
Disease or Syndrome
Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
MedGen UID:
477107
Concept ID:
C3275476
Disease or Syndrome
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
Complex lethal osteochondrodysplasia
MedGen UID:
900688
Concept ID:
C4225162
Disease or Syndrome
Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

Professional guidelines

PubMed

Waters CM, Ho S, Luginbuhl A, Curry JM, Cognetti DM
Ann Otol Rhinol Laryngol 2019 Mar;128(3):220-226. Epub 2018 Dec 10 doi: 10.1177/0003489418816999. PMID: 30525923
Fariña R, Canto L, Gunckel R, Alister JP, Uribe F
J Craniofac Surg 2018 Mar;29(2):427-431. doi: 10.1097/SCS.0000000000004134. PMID: 29509170
Morgan JA, Marcus PS
Obstet Gynecol Surv 2010 Apr;65(4):249-59. doi: 10.1097/OGX.0b013e3181dbc50b. PMID: 20403216

Recent clinical studies

Etiology

Nasr El-Din WA, Potu BK, Fadel RA, Salem AH, Sequeira RP, Almarabheh A, El-Fark MMO
Morphologie 2024 Mar;108(360):100702. Epub 2023 Oct 25 doi: 10.1016/j.morpho.2023.100702. PMID: 37890283
Sandhaus H, Johnson MD
Curr Opin Otolaryngol Head Neck Surg 2021 Aug 1;29(4):304-313. doi: 10.1097/MOO.0000000000000724. PMID: 34183561
Vandeput AS, Carels C, Da Costa Senior O, Peeters H, Politis C
J Craniofac Surg 2020 Jun;31(4):1091-1097. doi: 10.1097/SCS.0000000000006364. PMID: 32176019
Kaiser GL, Steffen C
Childs Nerv Syst 2020 Jul;36(7):1489-1498. Epub 2020 Feb 3 doi: 10.1007/s00381-020-04511-y. PMID: 32016574
Fariña R, Canto L, Gunckel R, Alister JP, Uribe F
J Craniofac Surg 2018 Mar;29(2):427-431. doi: 10.1097/SCS.0000000000004134. PMID: 29509170

Diagnosis

Al-Dubai SAS, Abdel-Rahman FH, Ahmed WMAS, Tawfik MA
J Contemp Dent Pract 2022 Oct 1;23(10):1008-1015. doi: 10.5005/jp-journals-10024-3423. PMID: 37073914
Vandeput AS, Carels C, Da Costa Senior O, Peeters H, Politis C
J Craniofac Surg 2020 Jun;31(4):1091-1097. doi: 10.1097/SCS.0000000000006364. PMID: 32176019
McMillan K, Lloyd M, Evans M, White N, Nishikawa H, Rodrigues D, Sharp M, Noons P, Solanki G, Dover S
J Craniofac Surg 2017 May;28(3):664-669. doi: 10.1097/SCS.0000000000003458. PMID: 28468145
Simpson A, Wong AL, Bezuhly M
Ann Plast Surg 2017 Jan;78(1):103-110. doi: 10.1097/SAP.0000000000000713. PMID: 26808733
Morgan JA, Marcus PS
Obstet Gynecol Surv 2010 Apr;65(4):249-59. doi: 10.1097/OGX.0b013e3181dbc50b. PMID: 20403216

Therapy

Abd-Allah ER, Amin S, El Ghareeb AEW, Badawy MA
J Biochem Mol Toxicol 2022 Aug;36(8):e23085. Epub 2022 May 2 doi: 10.1002/jbt.23085. PMID: 35499814
Katz A, Gidumal S, Mayland E, Genden E
Am J Otolaryngol 2021 Jul-Aug;42(4):102990. Epub 2021 Feb 17 doi: 10.1016/j.amjoto.2021.102990. PMID: 33621765
Hassan AM, Chappell AG, Murthy N, Stoehr JR, Alden T, Gosain AK
J Craniofac Surg 2021 Jan-Feb 01;32(1):62-66. doi: 10.1097/SCS.0000000000006980. PMID: 33136783
Momeni A, Januszyk M, Wan DC
J Craniofac Surg 2017 Jul;28(5):1236-1241. doi: 10.1097/SCS.0000000000003683. PMID: 28665865
Konopnicki S, Troulis MJ
J Oral Maxillofac Surg 2015 Dec;73(12 Suppl):S136-46. doi: 10.1016/j.joms.2015.05.037. PMID: 26608143

Prognosis

Katz A, Gidumal S, Mayland E, Genden E
Am J Otolaryngol 2021 Jul-Aug;42(4):102990. Epub 2021 Feb 17 doi: 10.1016/j.amjoto.2021.102990. PMID: 33621765
Kaiser GL, Steffen C
Childs Nerv Syst 2020 Jul;36(7):1489-1498. Epub 2020 Feb 3 doi: 10.1007/s00381-020-04511-y. PMID: 32016574
Fariña R, Canto L, Gunckel R, Alister JP, Uribe F
J Craniofac Surg 2018 Mar;29(2):427-431. doi: 10.1097/SCS.0000000000004134. PMID: 29509170
McMillan K, Lloyd M, Evans M, White N, Nishikawa H, Rodrigues D, Sharp M, Noons P, Solanki G, Dover S
J Craniofac Surg 2017 May;28(3):664-669. doi: 10.1097/SCS.0000000000003458. PMID: 28468145
Li X, Sandler H, Kleiven S
Biomech Model Mechanobiol 2017 Jun;16(3):823-840. Epub 2016 Nov 21 doi: 10.1007/s10237-016-0855-5. PMID: 27873038Free PMC Article

Clinical prediction guides

Nasr El-Din WA, Potu BK, Fadel RA, Salem AH, Sequeira RP, Almarabheh A, El-Fark MMO
Morphologie 2024 Mar;108(360):100702. Epub 2023 Oct 25 doi: 10.1016/j.morpho.2023.100702. PMID: 37890283
Park H, Min J, Choi JW, Ra YS
Plast Reconstr Surg 2023 Jun 1;151(6):1275-1284. Epub 2023 Jan 3 doi: 10.1097/PRS.0000000000010164. PMID: 36728579
Abd-Allah ER, Amin S, El Ghareeb AEW, Badawy MA
J Biochem Mol Toxicol 2022 Aug;36(8):e23085. Epub 2022 May 2 doi: 10.1002/jbt.23085. PMID: 35499814
Kaiser GL, Steffen C
Childs Nerv Syst 2020 Jul;36(7):1489-1498. Epub 2020 Feb 3 doi: 10.1007/s00381-020-04511-y. PMID: 32016574
Ma Z, Zheng J, Yang C, Xie Q, Liu X, Abdelrehem A
Medicine (Baltimore) 2018 Sep;97(37):e12047. doi: 10.1097/MD.0000000000012047. PMID: 30212935Free PMC Article

Recent systematic reviews

Solyom E, Szalai E, Czumbel ML, Szabo B, Váncsa S, Mikulas K, Radoczy-Drajko Z, Varga G, Hegyi P, Molnar B, Fazekas R
BMC Oral Health 2023 Apr 19;23(1):226. doi: 10.1186/s12903-023-02930-2. PMID: 37076844Free PMC Article
Badran KW, Suh JD, Namiri N, Wrobel B, Ference EH
Am J Rhinol Allergy 2018 Nov;32(6):465-472. Epub 2018 Aug 22 doi: 10.1177/1945892418793475. PMID: 30132339
Momeni A, Januszyk M, Wan DC
J Craniofac Surg 2017 Jul;28(5):1236-1241. doi: 10.1097/SCS.0000000000003683. PMID: 28665865

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