Total 36 clinical symptoms reported for Hyaline fibromatosis syndrome
Abnormality of dental morphology |
An abnormality of the morphology of the tooth.
Synonyms:Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth |
Very frequent |
Abnormality of the adrenal glands |
Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
Synonyms:Adrenal abnormalities |
Very frequent |
Abnormality of the gastrointestinal tract |
An abnormality of the gastrointestinal tract.
Synonyms:Abnormality of the gastrointestinal tract; Abnormality of the GI tract |
Very frequent |
Abnormality of the musculature |
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Synonyms:Muscular abnormality |
Very frequent |
Aplasia/Hypoplasia of the thymus |
Absence or underdevelopment of the thymus.
Synonyms:Absent/small thymus; Absent/underdeveloped thymus |
Very frequent |
Brachydactyly |
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.
Synonyms:Brachydactyly syndrome; Short fingers or toes |
Very frequent |
Camptodactyly of finger |
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Synonyms:Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures |
Very frequent |
Chronic diarrhea |
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Synonyms:Chronic diarrhea |
Very frequent |
Coarse facial features |
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies |
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
Very frequent |
Feeding difficulties |
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Synonyms:Feeding difficulties; Feeding problems; Poor feeding |
Very frequent |
Gingival overgrowth |
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Synonyms:Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis |
Very frequent |
Growth delay |
A deficiency or slowing down of growth pre- and postnatally.
Synonyms:Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth |
Very frequent |
Hyperpigmentation of the skin |
A darkening of the skin related to an increase in melanin production and deposition.
Synonyms:Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation |
Very frequent |
Hypotonia |
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
Very frequent |
Immunodeficiency |
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Synonyms:Decreased immune function; Immune deficiency |
Very frequent |
Increased susceptibility to fractures |
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Synonyms:Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures |
Very frequent |
Joint stiffness |
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Synonyms:Joint stiffness; Stiff joint; Stiff joints |
Very frequent |
Macrocephaly |
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly |
Very frequent |
Malabsorption |
Impaired ability to absorb one or more nutrients from the intestine.
Synonyms:Intestinal malabsorption; Malabsorption |
Very frequent |
Micromelia |
The presence of abnormally small extremities.
Synonyms:Smaller or shorter than typical limbs |
Very frequent |
Osteomalacia |
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Synonyms:Softening of the bones |
Very frequent |
Osteopenia |
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Synonyms:Generalized osteopenia |
Very frequent |
Osteoporosis |
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
|
Very frequent |
Polycystic ovaries |
Synonyms:Polycystic ovary; Sclerocystic ovaries |
Very frequent |
Recurrent bacterial infections |
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Synonyms:Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection |
Very frequent |
Recurrent fractures |
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Synonyms:Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures |
Very frequent |
Severe short stature |
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe |
Very frequent |
Short neck |
Diminished length of the neck.
Synonyms:Cervical shortening; Decreased cervical height; Decreased cervical length; Decreased length of neck; Short neck |
Very frequent |
Short palm |
Short palm.
Synonyms:Short palm |
Very frequent |
Skin ulcer |
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Synonyms:Open skin sore |
Very frequent |
Steatorrhea |
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Synonyms:Fat in feces; Fatty stool; Greasy stools |
Very frequent |
Subcutaneous nodule |
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Synonyms:Firm lump under the skin; Growth of abnormal tissue under the skin |
Very frequent |
Telangiectasia of the skin |
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Synonyms:Teleangiectasia of the skin |
Very frequent |
Thickened skin |
Laminar thickening of skin.
Synonyms:Pachydermia; Thick skin; Thickened skin |
Very frequent |
Urticaria |
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
Synonyms:Hives |
Very frequent |