Chondrodysplasia Punctata (Stippled Epiphyses)

A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

Also Known As:

Stippled Epiphyses; Chondrodysplasia Punctata 2, X-Linked; Chondrodysplasia Punctata 2, X-Linked Dominant; Conradi Hunermann Happle Syndrome; Conradi-Hunermann-Happle Syndrome; Conradi-Hünermann Syndrome; Conradi-Hünermann-Happle Syndrome; Happle Syndrome; Hunermann-Conradi Syndrome; X-Linked Chondrodysplasia Punctata 2; X-Linked Dominant Chondrodysplasia Punctata; Chondrodysplasia Punctata 2, X Linked; Chondrodysplasia Punctata 2, X Linked Dominant; Conradi Hunermann Syndrome; Conradi Hünermann Happle Syndrome; Conradi Hünermann Syndrome; Conradi-Hunermann-Happle Syndromes; Conradi-Hünermann Syndromes; Conradi-Hünermann-Happle Syndromes; Hunermann Conradi Syndrome; X Linked Chondrodysplasia Punctata 2; X Linked Dominant Chondrodysplasia Punctata; Chondrodystrophia Calcificans Congenita; Conradi-Hunermann Syndrome; Dysplasia Epiphysialis Punctata; Epiphyses, Stippled

Networked: 178 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Chondrodysplasia Punctata: 178
        Rhizomelic Chondrodysplasia Punctata: 112
        X-Linked Chondrodysplasia Punctata 1: 10
        Brachytelephalangic Chondrodysplasia Punctata: 6
        Astley-Kendall syndrome: 1
        Pacman dysplasia: 1
        Tibia-Metacarpal Type Chondrodysplasia Punctata: 1
        Autosomal Dominant Chondrodysplasia Punctata
        Chondrodysplasia Punctata Syndrome
        Chondrodysplasia Punctata with Coagulation Factor Deficiency

Related Diseases

1.	Smith-Lemli-Opitz Syndrome
2.	Refsum Disease (Refsum's Disease)
3.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
4.	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
5.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)

Experts

1.	Rossi, Massimiliano: 4 articles (01/2022 - 01/2005)
2.	Brunetti-Pierri, Nicola: 4 articles (01/2018 - 03/2003)
3.	Parenti, Giancarlo: 4 articles (01/2018 - 03/2003)
4.	Kelley, R I: 4 articles (08/2001 - 01/2000)
5.	Ballabio, Andrea: 3 articles (01/2018 - 03/2003)
6.	Andria, Generoso: 3 articles (07/2015 - 03/2003)
7.	Braverman, Nancy: 3 articles (04/2010 - 12/2004)
8.	Adang, Laura A: 2 articles (11/2020 - 01/2018)
9.	De Castro, Mauricio: 2 articles (11/2020 - 01/2018)
10.	Dierks, Thomas: 2 articles (11/2020 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chondrodysplasia Punctata:

1.	SterolsIBA 05/01/2002 - "Therefore we performed sterol biochemical studies in 11 Conradi-Hünermann-Happle syndrome families and compared the results obtained to the clinical and molecular genetic findings. " 01/01/2008 - "We suggest that plasma sterol analysis is a reliable method of establishing the diagnosis of Conradi-Hünermann-Happle syndrome, even in patients with less striking phenotypical changes beyond infancy." 01/22/2001 - "In addition, the sterol profile, for which abnormalities have recently been reported in cases of X-linked dominant form chondrodysplasia punctata (CDPX2), was normal both in the liver and in the fibroblasts. " 11/01/2000 - " combined results were used to formulate a scheme of normal and aberrant biosynthetic pathways that illuminate the origin and metabolic fate of abnormal sterols observed in SLOS and chondrodysplasia punctata." 01/01/2008 - "Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis."
2.	CholesterolIBA 12/01/2016 - "The established abnormalities of cholesterol biosynthesis in patients with Conradi-Hünermann-Happle syndrome may well explain the observed liver anomaly, which is a novel phenotype of this syndrome. " 03/01/2014 - "The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome." 01/01/2007 - "X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis." 11/01/2000 - "Cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome." 03/01/2008 - "Recently, we studied autopsy material from 2 infants with fatal cholesterol biosynthetic disorders (Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata) in which the hepatic cholesterol levels were far greater. "
3.	Phytanic AcidIBA 11/01/1992 - "In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata." 11/01/1992 - "A series of in vivo experiments is described in which [1-13C]phytanic acid was given as an oral substrate to a healthy subject and two patients showing an impairment in phytanic acid degradation, one with Refsum's disease and one with chondrodysplasia punctata. " 10/01/1988 - "Plasmalogen biosynthesis and phytanic acid oxidation activity were measured in cultured chorionic villus samples or amniocytes from four pregnancies at risk for the rhizomelic form of chondrodysplasia punctata (RCDP). " 01/01/1991 - "This review of the literature also contains novel observations about the following syndromes: cerebro-hepato-renal (Zellweger) syndrome, X-linked and neonatal adrenoleukodystrophies (ALD, NALD), NALD-like syndromes, infantile phytanic acid storage, classical Refsum disease, rhizomelic and other forms of chondrodysplasia punctata (XD, XR, AR), hyperpipecolic acidaemia, primary hyperoxaluria I, pseudo-Zellweger and Zellweger-like syndromes, and single enzyme deficiencies. " 11/01/1992 - "In addition to phytanic acid accumulation (232 mumol/L), the chondrodysplasia punctata patient showed an elevated 2-hydroxyphytanic acid plasma concentration (0.4 mumol/L), whereas the plasma pristanic acid level was in the control range (0.7 mumol/L).(ABSTRACT TRUNCATED AT 250 WORDS)"
4.	LipidsIBA 03/01/2004 - "Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome." 07/01/1992 - "These disorders include X-linked ichthyosis, lamellar ichthyosis, Sjögren-Larsson syndrome, KID syndrome, Refsum's disease, neutral lipid storage disease, chondrodysplasia punctata, and Richner-Hanhart syndrome. " 03/01/2008 - "Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata." 03/01/2008 - "In this study, we demonstrate abnormal accumulation of sterol precursors of cholesterol in membrane lipid rafts (detergent resistance membranes) prepared from liver tissues of these 2 infants: 8-dehydrocholesterol and 7-dehydrocholesterol in lipid rafts of the infant with Smith-Lemli-Opitz syndrome and cholest-8(9)-ene-3beta-ol in lipid rafts of the infant with X-linked dominant chondrodysplasia punctata. "
5.	cholesta-5,8-dien-3 beta-olIBA 07/01/2008 - "High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation." 01/01/2008 - "Diagnosis of Conradi-Hünermann-Happle syndrome was confirmed by plasma sterol analysis showing markedly elevated levels of 8(9)-cholestenol and 8-dehydrocholesterol and by detection of a missense mutation (c.307G>A; p.E103K) in the emopamil-binding protein gene. " 03/01/2008 - "In this study, we demonstrate abnormal accumulation of sterol precursors of cholesterol in membrane lipid rafts (detergent resistance membranes) prepared from liver tissues of these 2 infants: 8-dehydrocholesterol and 7-dehydrocholesterol in lipid rafts of the infant with Smith-Lemli-Opitz syndrome and cholest-8(9)-ene-3beta-ol in lipid rafts of the infant with X-linked dominant chondrodysplasia punctata. "
6.	Proteoglycans (Proteoglycan)IBA 08/01/1994 - "Single-strand conformation polymorphism analysis of these proteoglycan cDNAs was also applied to study patients exhibiting a variety of connective tissue pathologies, including chondrodysplasia punctata, Desbuquois syndrome, Dyggve-Melchior-Clausen syndrome, dyssegmental dysplasia, Ehlers-Danlos syndrome types I and III, Ellis van Creveld syndrome and thanatophoric dysplasia, though no additional sequence variations were detected." 08/01/2011 - "The removal of sulfate via sulfatases is an important step in proteoglycan degradation, and defects in several sulfatases are linked to perturbed fetal bone development, including mesomelia-synostoses syndrome and chondrodysplasia punctata 1. In recent years, interest in sulfate and its role in developmental biology has expanded following the characterisation of sulfate transporters, sulfotransferases and sulfatases and their involvement in fetal growth. "
7.	7-dehydrocholesterolIBA 02/24/2010 - "We propose that the high reactivity of 7-DHC and the oxysterols generated from its peroxidation may play important roles in the pathogenesis of Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata, and cerebrotendinous xanthomatosis, all of these being metabolic disorders characterized by an elevated level of 7-DHC." 03/01/2008 - "In this study, we demonstrate abnormal accumulation of sterol precursors of cholesterol in membrane lipid rafts (detergent resistance membranes) prepared from liver tissues of these 2 infants: 8-dehydrocholesterol and 7-dehydrocholesterol in lipid rafts of the infant with Smith-Lemli-Opitz syndrome and cholest-8(9)-ene-3beta-ol in lipid rafts of the infant with X-linked dominant chondrodysplasia punctata. "
8.	Membrane LipidsIBA 03/01/2008 - "In this study, we demonstrate abnormal accumulation of sterol precursors of cholesterol in membrane lipid rafts (detergent resistance membranes) prepared from liver tissues of these 2 infants: 8-dehydrocholesterol and 7-dehydrocholesterol in lipid rafts of the infant with Smith-Lemli-Opitz syndrome and cholest-8(9)-ene-3beta-ol in lipid rafts of the infant with X-linked dominant chondrodysplasia punctata. "
9.	Detergents (Detergent)IBA 03/01/2008 - "In this study, we demonstrate abnormal accumulation of sterol precursors of cholesterol in membrane lipid rafts (detergent resistance membranes) prepared from liver tissues of these 2 infants: 8-dehydrocholesterol and 7-dehydrocholesterol in lipid rafts of the infant with Smith-Lemli-Opitz syndrome and cholest-8(9)-ene-3beta-ol in lipid rafts of the infant with X-linked dominant chondrodysplasia punctata. "
10.	Cytidine Diphosphate (CDP)IBA 10/01/2022 - "An infant boy with chondrodysplasia punctata tibial-metacarpal type (CDP-TM) was followed up till skeletal maturity. " 01/01/2019 - "Chondrodysplasia punctata (CDP) should be considered if prenatal ultrasound shows high punctuate echoes at the metaphysis of long bones and asymmetrical short lower limbs. " 07/01/2018 - "Chondrodysplasia punctata (CDP) is a group of skeletal dysplasias characterized primarily by punctate calcifications in cartilage. " 01/01/2018 - "Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. " 01/01/2017 - "Chondrodysplasia punctata (CDP) is a heterogeneous disease with multiple syndromic types and characterization of the CDP subtype is important for prognostic purposes. "

Therapies and Procedures

1.	Therapeutics 02/15/1977 - "Relationship of maternal warfarin therapy in pregnancy to chondrodysplasia punctata: report of a case." 03/01/1976 - "Eight cases demonstrating an association between warfarin therapy during pregnancy and chondrodysplasia punctata in the child have been reported; in the present case therapy was initiated following conception (see following case report). " 03/01/1976 - "Warfarin therapy initiated during pregnancy and phenotypic chondrodysplasia punctata." 01/01/2011 - "Warfarin, which is used for anticoagulant therapy, rarely produces congenital warfarin syndrome characterized with hypoplastic nose, stippled epiphyses, and skeletal abnormalities when ingested during pregnancy. " 02/01/1984 - "Anticoagulant therapy using coumarin derivatives (vitamin K antagonists) during early pregnancy may result in a characteristic embryopathy appearing as a phaenocopy of chondrodysplasia punctata (Conradi-Hünermann's disease). "
2.	Laparoscopic Cholecystectomy 12/01/2016 - "Here, we report a surprise finding during the laparoscopic cholecystectomy of a patient with Conradi-Hünermann-Happle syndrome, in whom the liver segments were not fused. " 12/01/2016 - "Laparoscopic cholecystectomy was performed because of recurrent biliary pancreatitis in a 47 year-old male patient, who had been diagnosed with Conradi-Hünermann-Happle syndrome. "
3.	Tissue Expansion 07/01/1991 - "Nasal augmentation in chondrodysplasia punctata using tissue expansion."
4.	X-Ray Film 12/19/1997 - "In addition, the diagnosis of chondrodysplasia punctata was made from lumbar and hand X-ray films taken soon after birth. "
5.	Tympanoplasty 10/01/2017 - "Tympanoplasty for chondrodysplasia punctata: Case report."