Pyle Disease

Last update 08 May 2025

Basic Info

Synonyms

Edwin Pyle disease, METAPHYSEAL DYSPLASIA, PYLE TYPE, Metaphyseal dysplasia

+ [17]

Introduction

A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.

Clinical Trials associated with Pyle Disease

NCT05046977

/ Unknown statusNot ApplicableIIT

Double Osteotomy for Deformity Correction In Pyle Disease: Comparative Study

Leg deformity is one of the features of Pyle disease( metaphyseal dysplasia). Correction of valgus deformity of the leg can be done after deformity analysis by double osteotomy so this study showed how double osteotomy can lead to better results than single osteotomy.

Start Date20 Sep 2021

Sponsor / Collaborator

Hawler Medical University

100 Clinical Results associated with Pyle Disease

100 Translational Medicine associated with Pyle Disease

0 Patents (Medical) associated with Pyle Disease

398

Literatures (Medical) associated with Pyle Disease

01 Dec 2025·Current Osteoporosis Reports

Congenital Bone Disorders Associated with ERI1-Mediated RNA Metabolism Dysfunction: Spondylo-Epi-Metaphyseal Dysplasia Guo-Campeau Type and Beyond

Review

Author: Zhu, Jinhui ; Guo, Long ; Liu, Wanqi ; Qiang, Rong ; Rabouhi, Nazim ; Ikegawa, Shiro ; Campeau, Philippe M ; Xiao, Dan ; Ren, Kaitao

PURPOSE OF REVIEWThe purpose of this review is to explore the multifaceted roles of the ERI1 exoribonuclease, particularly in RNA metabolism and bone development, and to address the genotype-phenotype complexity in patients and mice with ERI1 pathogenic variants.RECENT FINDINGSThe 3'-to-5' exoribonuclease 1 encoded by the ERI1 gene performs a variety of biologically essential functions, including modulating RNA interference, heterochromatin formation, rRNA maturation, and histone mRNA degradation. Recently, the relationship between ERI1 variants and human skeletal dysplasia has garnered increasing attention. In a phenotypic dichotomy associated with bi-allelic ERI1 variants, patients with at least one missense pathogenic variant exhibited severe spondylo-epi-metaphyseal dysplasia (SEMD), while those with bi-allelic nonsense pathogenic variant only presented mild anomaly in digits. The biological mechanisms underlying the bone dysplasia caused by ERI1 pathogenic variants remain unknown. Although Eri1 knockout (KO) mice showed mild skeletal phenotypes, neither SEMD nor digital anomaly were found, further underscoring a complex genotype-phenotype relationship of ERI1 pathogenic variants. We systematically reviewed the advances in exploring the multiple functions of ERI1 with emphasis on its roles in RNA metabolism and skeletal development. Our review would contribute to the understanding of the phenotypic spectrum caused by ERI1 pathogenic variants and the limitations of existing disease models in revealing the corresponding pathomechanism.

01 May 2025·Journal of Human Genetics

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia

Article

Author: Elhossini, Rasha M ; Abdel-Ghafar, Sherif F ; Abdel-Hamid, Mohamed S ; Aglan, Mona S ; Mehrez, Mennat ; Hassib, Nehal F

AbstractOdontochondrodysplasia (ODCD) is a rare skeletal dysplasia characterized by short stature, skeletal deformities, and dentinogenesis imperfecta (DI). Although the majority of cases were associated with biallelic variants in TRIP11, one study described a homozygous truncating variant in MIA3, encoding TANGO1, in four sibs with ODCD in association with insulin-dependent diabetes, hearing loss, obesity, and intellectual disability. Subsequently, a homozygous truncating variant in the luminal domain of TANGO1 was identified in a fetus with a lethal skeletal dysplasia and fetal hydrops. Herein, we describe two unrelated patients with a distinct phenotype including severe short limbs, short stature, metaphyseal dysplasia, dysmorphic facies, lax joints, and DI. Other variable features were scoliosis, squint, and cardiac problems. Exome sequencing revealed two homozygous MIA3 variants in the luminal domain of TANGO1, c.354+2T>G and p.Cys38Phe. The c.354+2T>G variant was confirmed by investigating the patient’s mRNA to result in exon 3 skipping and an inframe deletion of 29 amino acids. Our patients lacked the extra-skeletal manifestations noted in the four sibs with MIA3 variant. However, they had more severe skeletal deformities closely resembling those observed in patients with TRIP11 variants. Our study suggests the presence of a phenotypic spectrum associated with MIA3 variants including ODCD with milder skeletal deformities, a classic ODCD with severe skeletal deformities, and a lethal skeletal dysplasia at the severe end of the spectrum. Although the striking phenotypic variability appears to be related to the type and or the location of the MIA3 variants, the influence of other factors cannot be ruled out.

06 Jan 2025·JBMR Plus

Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations

Article

Author: Farhadi, Faraz ; Obiezu, Fiona ; Collins, Michael T ; Kim, Hung Jeffrey ; Ferreira, Carlos R ; Jüppner, Harald ; Jahanmir, Golnar ; Lee, Janice S ; Roszko, Kelly L ; Boyce, Alison ; Almpani, Konstantinia ; Weinstein, Lee S ; Gafni, Rachel I ; Jha, Smita ; Chu, Emily ; Zalewski, Christopher

AbstractJansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by constitutive activation of parathyroid hormone type 1 receptor (PTH1R). We sought to characterize the craniofacial phenotype of patients with the disease. Six patients with genetically confirmed JMC underwent comprehensive craniofacial phenotyping revealing a distinct facial appearance that prompted a cephalometric analysis demonstrating a pattern of mandibular retrognathia. Oral examination was notable for flat and shallow palate, delayed eruption pattern, and impacted maxillary teeth. Subclinical and/or mild hearing loss was noted in 4 of 5 patients studied. The most common etiology was conductive, likely due to overcrowding of epitympanum which impedes the normal vibration of ossicles to sound. Paranasal sinus obliteration was noted in 5 of 6 patients. Computed tomography (CT) scan evaluation of craniofacial bones revealed bilaterally symmetric expansile lesions with predominant involvement of neural crest cell (NCC)-derived bones. Bilateral narrowing of facial nerve canals, particularly at the labyrinthine segment, was seen in 5 of 6 patients when compared to age-matched controls; 1 patient presented with progressive facial nerve palsy. Sagittal suture craniosynostosis was present in 5 of 6 patients—one of whom had a history of cranial reconstruction for pansynostosis in infancy. All patients demonstrated a significant degree of upper airway stenosis, as well as a more anterior hyoid bone displacement. Two patients had a diagnosis of obstructive sleep apnea. 18F-NaF Positron-emission tomography (PET)-CT revealed increased uptake associated with the skull base and gnathic bones in all patients. In conclusion, this first detailed systematic evaluation of the craniofacial phenotype of patients with JMC demonstrates a distinct and pronounced phenotype that predominantly affects the NCC-derived cranial bones indicating a critical role of PTH1R signaling in their development. These affects can result in significant disease-related morbidity, include hearing loss, nerve compression, craniosynostosis, dentoskeletal malocclusion, and airway compromise; all of which require close monitoring.

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Pyle Disease

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