A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations
Abstract
We previously described two unrelated patients showing characteristic facial and skeletal features, overlapping with the kyphoscoliosis type Ehlers–Danlos syndrome (EDS) but without lysyl hydroxylase deficiency [Kosho et al. (2005) Am J Med Genet Part A 138A:282–287]. After observations of them over time and encounter with four additional unrelated patients, we have concluded that they represent a new clinically recognizable type of EDS with distinct craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations. The patients exhibited strikingly similar features according to their age: craniofacial, large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low‐set and rotated ears, high palate, long philtrum, thin vermilion of the upper lip, small mouth, and micro‐retrognathia in infancy; slender and asymmetric face with protruding jaw from adolescence; skeletal, congenital contractures of fingers, wrists, and hips, and talipes equinovarus with anomalous insertions of flexor muscles; progressive joint laxity with recurrent dislocations; slender and/or cylindrical fingers and progressive talipes valgus and cavum or planus, with diaphyseal narrowing of phalanges, metacarpals, and metatarsals; pectus deformities; scoliosis or kyphoscoliosis with decreased physiological curvatures of thoracic spines and tall vertebrae; cutaneous, progressive hyperextensibility, bruisability, and fragility with atrophic scars; fine palmar creases in childhood to acrogeria‐like prominent wrinkles in adulthood, recurrent subcutaneous infections with fistula formation; cardiovascular, cardiac valve abnormalities, recurrent large subcutaneous hematomas from childhood; gastrointestinal, constipation, diverticula perforation; respiratory, (hemo)pneumothorax; and ophthalmological, strabismus, glaucoma, refractive errors. © 2010 Wiley‐Liss, Inc.
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Intranasal administration of DDAVP after trauma effectively prevented large subcutaneous hematomas in three patients.
“Intranasal administration of 1-desamino-8-Darginine vasopressin (DDAVP) after trauma effectively prevented large subcutaneous hematomas in three patients [Kosho et al., 2010;Janecke et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2010
Progressive visual field loss was described in a 31-year-old female.
“Progressive visual field loss was described in a 31-year-old female [Kosho et al., 2010], deterioration in vision of the right eye because of the lacquer crack in Bruch's membrane adjacent to right fovea in a 15-year-old male [Syx et al., 2015], and right-sided blindness because of retinal detachment in a 45-year-old female [Janecke et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2010
One adult patient could not walk unassisted because of severe foot deformities and leg muscle weakness.
“One adult patient could not walk unassisted because of severe foot deformities and leg muscle weakness [Kosho et al., 2010].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2010
Pneumothorax or pneumohemothorax occurred in three adult patients, who were treated with chest tube drainage.
“Pneumothorax or pneumohemothorax occurred in three adult patients, who were treated with chest tube drainage [Kosho et al., 2010].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2010
One adolescent patient had a severe progressive gastric ulcer, treated with partial gastrectomy.
“One adolescent patient had a severe progressive gastric ulcer, treated with partial gastrectomy [Kosho et al., 2010].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2010
Two adults and one adolescent patient had colonic diverticula perforation, corrected surgically.
“Two adults and one adolescent patient had colonic diverticula perforation, corrected surgically [Kosho et al., 2010;Kono et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kosho et al., 2010
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- Authors
- Kosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., Igawa, Y., Yasui, H., Ishida, T., Ono, K., Kosuda, T., Inoue, A., Kohyama, M., Hattori, T., Ohashi, H., Nishimura, G., Kawamura, R., Wakui, K., Fukushima, Y., & Matsumoto, N.
- Affiliations
- Shinshu University (JP)
- Yokohama City University (JP)
- Dokkyo University (JP)
- Sapporo Medical University (JP)
- Public Tomioka General Hospital (JP)
- Hiroshima General Hospital (JP)
- Aichi Children's Health and Medical Center (JP)
- Saitama Children's Medical Center (JP)
- Tokyo Metropolitan Kiyose Children's Hospital (JP)
- Corresponding author
- Kosho, Tomoki
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-05-14
- Volume
- 152A
- Issue
- 6
- Pages
- 1333-1346
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2006058036
- Cited by
- 88
- References
- 18
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 8 · 2022: 6 · 2021: 8 · 2020: 7 · 2019: 3 · 2018: 5 · 2017: 7 · 2016: 3 · 2015: 5 · 2014: 7 · 2013: 7 · 2012: 6
- FWCI
- 4.14
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Japan Society for the Promotion of Science (21591442, 21592069)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Keywords
- Ehlers-Danlos syndrome, craniofacial dysmorphism, congenital contractures, joint hypermobility, skin hyperextensibility, kyphoscoliosis, clubfoot, recurrent dislocation, pectus deformity, subcutaneous hematoma, gastrointestinal complications, ocular manifestations
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, Contracture, Ehlers-Danlos Syndrome, Female, Humans, Japan, Joints, Male, Skin Abnormalities, Craniofacial Abnormalities, Young Adult
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