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Undifferentiated connective tissue dysplasia
Medical expert of the article
Last reviewed: 12.07.2025
Undifferentiated connective tissue dysplasia is not a single nosological entity, but a genetically heterogeneous group, a complex of multifactorial diseases, the pathogenetic basis of which is individual features of the genome; clinical manifestation is provoked by the action of damaging environmental conditions (intrauterine factors, nutritional deficiencies). In the literature, there are many variants of designations of undifferentiated connective tissue dysplasia: mesenchymal insufficiency, mesenchymosis, MASS phenotype, cardiac connective tissue dysplasia, joint hypermobility syndrome, hematomesenchymal dysplasia, etc. All these terms emphasize particular aspects of the general problem of hereditary weakness of connective tissue. Clinically, such children are observed by various narrow specialists, each of whom prescribes their own treatment, sometimes untimely and not giving the desired effect.
Due to the lack of accurate diagnostics, the population frequency of undifferentiated connective tissue dysplasia has not been studied, but they occur significantly more often than differentiated forms.
What causes undifferentiated connective tissue dysplasia?
The disease is multifactorial, often associated with an anomaly of collagen or other connective tissue proteins (elastin, fibrillin, collagenases). 42 genes participate in the synthesis of 27 types of collagen, more than 1300 mutations have been described in 23 of them. The diversity of mutations and their phenotypic manifestations complicates diagnostics. Given the wide representation of connective tissue in the body, this group of disorders often complicates the course of diseases of organs and systems.
Symptoms of undifferentiated connective tissue dysplasia
Phenotypic features of connective tissue dysplasia:
- constitutional features (asthenic body type, weight deficit);
- CTD syndrome itself (anomalies in the development of the facial skull and skeleton, limbs, including kyphoscoliosis, chest deformity, joint hypermobility, skin hyperelasticity, flat feet);
- minor developmental anomalies that in themselves have no clinical significance, but act as stigmas.
A close relationship has been established between the number of external phenotypes, the degree of expression of external dysplastic disorders and changes in the connective tissue framework of internal organs - internal phenotypic features of the syndrome.
Classification of undifferentiated connective tissue dysplasia
There are 10 dysplastic syndromes and phenotypes: Marfan-like appearance; Marfan-like phenotype; MASS-phenotype (Mitral valve, Aorta, Skeleton, Skin), primary mitral valve prolapse; Ehlers-like phenotype (classic or hypermobile); benign joint hypermobility; unclassified phenotype of CTD; increased dysplastic stigmatization; increased dysplastic stigmatization with predominantly visceral manifestations. Differences in clinical symptoms of individual syndromes and phenotypes with different prognostic value have been revealed. The unclassified phenotype and increased dysplastic stigmatization have minimal clinical manifestations and are close to normal variants (Zemtsovsky E.V., 2007).
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Diagnosis of undifferentiated connective tissue dysplasia
There are no generally accepted diagnostic algorithms for undifferentiated connective tissue dysplasia. The complexity of diagnostics is aggravated by the lack of an accurate definition of the nature and number (specificity) of the signs. The peak of diagnostics occurs in senior school age. Prognostic factors of the genealogical history for the formation of UCTD are signs of CTD in relatives of the 1st and 2nd degree (chest deformities, heart valve prolapses, joint hypermobility, hyperextensibility and thinning of the skin, spinal pathology, myopia). Pedigree data indicate the accumulation of pathology in families related to CTD: osteochondrosis, polyarthritis, varicose veins, hernias, hemorrhagic diseases. The presence of joint hypermobility can often be established in blood relatives.
What do need to examine?
How to examine?
What tests are needed?
Treatment of undifferentiated connective tissue dysplasia
Joint observation by a pediatrician and orthopedist. A diet rich in microelements; therapeutic exercise, massage, manual therapy; vitamin and mineral (Supradin, Duovit, Oligovit, Complivit), amino acid complexes, calcium preparations (Calcium-D3-Nycomed Calcimax), magnesium (CaMgchelate, Magnerot, MagneB 6 ) chondroitin sulfate internally and locally, trophic therapy. It is recommended to prescribe a course of vitamins E, C, B 6 in therapeutic doses, preparations of polyunsaturated fatty acids (omega-3, suprema oil, azelikaps), potassium (panangin), ATP, riboxin. Therapy depends on the leading clinical manifestations from the organ systems.
The prognosis is favorable; manifestations decrease with age.