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Pyknodysostosis(PKND)

MedGen UID:
116061
Concept ID:
C0238402
Disease or Syndrome
Synonym: Pycnodysostosis
SNOMED CT: Pyknodysostosis (89647000); Maroteaux-Lamy pyknodysostosis syndrome (89647000); Maroteaux-Lamy syndrome II (89647000); Stanesco's dysostosis syndrome (89647000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CTSK (1q21.3)
 
Monarch Initiative: MONDO:0009940
OMIM®: 265800
Orphanet: ORPHA763

Disease characteristics

Excerpted from the GeneReview: Pycnodysostosis
Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial sutures, and dysplasia of the clavicle. In affected individuals, the facial features become more prominent with age, likely due to progressive acroosteolysis of the facial bones, but can usually be appreciated from early childhood, particularly the small jaw and convex nasal ridge. Additional features include dental and nail anomalies. Intelligence is typically normal with mild psychomotor difficulties reported in some individuals. [from GeneReviews]
Authors:
Shannon LeBlanc  |  Ravi Savarirayan   view full author information

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Osteolytic defects of the distal phalanges of the hand
MedGen UID:
341480
Concept ID:
C1849547
Finding
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Increased bone mineral density
MedGen UID:
10502
Concept ID:
C0029464
Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Spondylolisthesis
MedGen UID:
52470
Concept ID:
C0038016
Disease or Syndrome
Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).
Spondylolysis
MedGen UID:
21294
Concept ID:
C0038018
Disease or Syndrome
Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Narrow iliac wing
MedGen UID:
373150
Concept ID:
C1836688
Finding
Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
Persistent open anterior fontanelle
MedGen UID:
376607
Concept ID:
C1849537
Finding
The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.
Prominent occiput
MedGen UID:
381255
Concept ID:
C1853737
Finding
Increased convexity of the occiput (posterior part of the skull).
Absent frontal sinuses
MedGen UID:
343405
Concept ID:
C1855669
Finding
Aplasia of frontal sinus.
Aplastic clavicle
MedGen UID:
341820
Concept ID:
C1857665
Congenital Abnormality
Absence of the clavicles as a developmental defect.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Persistence of primary teeth
MedGen UID:
75597
Concept ID:
C0266050
Disease or Syndrome
Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
Prominent nose
MedGen UID:
98423
Concept ID:
C0426415
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Narrow palate
MedGen UID:
278045
Concept ID:
C1398312
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Delayed eruption of primary teeth
MedGen UID:
341477
Concept ID:
C1849538
Finding
Delayed tooth eruption affecting the primary dentition.
Delayed eruption of permanent teeth
MedGen UID:
340353
Concept ID:
C1849540
Finding
Delayed tooth eruption affecting the secondary dentition.
Ridged nail
MedGen UID:
140853
Concept ID:
C0423820
Finding
Longitudinal, linear prominences in the nail plate.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyknodysostosis
Follow this link to review classifications for Pyknodysostosis in Orphanet.

Professional guidelines

PubMed

Jacobson HG
Skeletal Radiol 1985;13(2):97-113. doi: 10.1007/BF00352080. PMID: 3883506

Recent clinical studies

Etiology

Varol A, Sabuncuoglu FA, Sencimen M, Akcam T, Olmez H, Basa S
J Craniofac Surg 2011 May;22(3):901-4. doi: 10.1097/SCS.0b013e31820f7f3c. PMID: 21558928
Frota R, Linard RA, de Oliveira e Silva ED, Antunes AA, Carvalho RW, Santos Tde S
J Craniofac Surg 2010 May;21(3):787-9. doi: 10.1097/SCS.0b013e3181d7f2b0. PMID: 20485049
Rothenbühler A, Piquard C, Gueorguieva I, Lahlou N, Linglart A, Bougnères P
J Clin Endocrinol Metab 2010 Jun;95(6):2827-31. Epub 2010 Mar 31 doi: 10.1210/jc.2009-2531. PMID: 20357177
Singh AR, Kaur A, Anand NK, Singh JR
Indian J Pediatr 2004 May;71(5):453-5. doi: 10.1007/BF02725641. PMID: 15163881
Soni RK, Cavendish ME
J Bone Joint Surg Br 1984 Mar;66(2):248-53. doi: 10.1302/0301-620X.66B2.6707062. PMID: 6707062

Diagnosis

Calder AD, Arulkumaran S, D'Arco F
Bone 2022 Dec;165:116560. Epub 2022 Sep 15 doi: 10.1016/j.bone.2022.116560. PMID: 36116759
Boulet C, Madani H, Lenchik L, Vanhoenacker F, Amalnath DS, de Mey J, De Maeseneer M
Br J Radiol 2016 Jun;89(1062):20150349. Epub 2016 Feb 22 doi: 10.1259/bjr.20150349. PMID: 26898950Free PMC Article
He L, Winalski CS, Deal C, Holden D
Skeletal Radiol 2016 Jun;45(6):821-3, 851-2. doi: 10.1007/s00256-015-2318-y. PMID: 26746201
Bathi RJ, Masur VN
Int J Oral Maxillofac Surg 2000 Dec;29(6):439-42. PMID: 11202325
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Therapy

Verma V, Singh RK
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):444-449. Epub 2020 Apr 6 doi: 10.4274/jcrpe.galenos.2020.2019.0194. PMID: 32248673Free PMC Article
Frota R, Linard RA, de Oliveira e Silva ED, Antunes AA, Carvalho RW, Santos Tde S
J Craniofac Surg 2010 May;21(3):787-9. doi: 10.1097/SCS.0b013e3181d7f2b0. PMID: 20485049
Rothenbühler A, Piquard C, Gueorguieva I, Lahlou N, Linglart A, Bougnères P
J Clin Endocrinol Metab 2010 Jun;95(6):2827-31. Epub 2010 Mar 31 doi: 10.1210/jc.2009-2531. PMID: 20357177
Schmitz JP, Gassmann CJ, Bauer AM, Smith BR
J Oral Maxillofac Surg 1996 Apr;54(4):513-7. doi: 10.1016/s0278-2391(96)90131-7. PMID: 8600271

Prognosis

Verma V, Singh RK
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):444-449. Epub 2020 Apr 6 doi: 10.4274/jcrpe.galenos.2020.2019.0194. PMID: 32248673Free PMC Article
Singh AR, Kaur A, Anand NK, Singh JR
Indian J Pediatr 2004 May;71(5):453-5. doi: 10.1007/BF02725641. PMID: 15163881
Kirita T, Sugiura T, Horiuchi K, Morimoto Y, Yazima H, Sugimura M
Br J Plast Surg 2001 Dec;54(8):712-4. doi: 10.1054/bjps.2001.3708. PMID: 11728116
Soni RK, Cavendish ME
J Bone Joint Surg Br 1984 Mar;66(2):248-53. doi: 10.1302/0301-620X.66B2.6707062. PMID: 6707062
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Clinical prediction guides

Verma V, Singh RK
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):444-449. Epub 2020 Apr 6 doi: 10.4274/jcrpe.galenos.2020.2019.0194. PMID: 32248673Free PMC Article
Rothenbühler A, Piquard C, Gueorguieva I, Lahlou N, Linglart A, Bougnères P
J Clin Endocrinol Metab 2010 Jun;95(6):2827-31. Epub 2010 Mar 31 doi: 10.1210/jc.2009-2531. PMID: 20357177
Karkabi S, Reis ND, Linn S, Edelson G, Tzehoval E, Zakut V, Dolev E, Bar-Meir E, Ish-Shalom S
Calcif Tissue Int 1993 Sep;53(3):170-3. doi: 10.1007/BF01321833. PMID: 8242468
Kawahara K, Nishikiori M, Imai K, Kishi K, Fujiki Y
Oral Surg Oral Med Oral Pathol 1977 Sep;44(3):476-82. doi: 10.1016/0030-4220(77)90419-4. PMID: 269344

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