Total 34 clinical symptoms reported for Borjeson-Forssman-Lehmann syndrome
| Broad foot |
A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
Synonyms:Broad feet; Broad foot; Wide foot |
Very frequent |
| Camptodactyly of toe |
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Synonyms:Camptodactyly of feet |
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 |
| Cryptorchidism |
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Synonyms:Cryptorchism; Undescended testes; Undescended testis |
Very frequent |
| Decreased testicular size |
Reduced volume of the testicle (the male gonad).
Synonyms:Decreased testicular size; Hypoplastic testes; Small testes; Small testis; Testicular hypoplasia |
Very frequent |
| Gynecomastia |
Abnormal development of large mammary glands in males resulting in breast enlargement.
Synonyms:Enlarged male breast; Gynaecomastia |
Very frequent |
| Hypogonadism |
A decreased functionality of the gonad.
Synonyms:Decreased activity of gonads |
Very frequent |
| Hypoplasia of penis |
Synonyms:Underdeveloped penis |
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 |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
| Large earlobe |
Increased volume of the earlobe, that is, abnormally prominent ear lobules.
Synonyms:Fleshy earlobe; Fleshy earlobes; Large earlobe; Prominent ear lobes; Prominent ear lobules |
Very frequent |
| Short toe |
A toe that appears disproportionately short compared to the foot.
Synonyms:Brachydactyly of the foot; Hypoplasia of the toe; Hypoplastic toes; Short foot phalanges; Short toe; Short toes; Stubby toes |
Very frequent |
| Small scrotum |
Apparently small scrotum for age.
Synonyms:Hypoplastic scrotum; Scrotal hypoplasia; Smaller than typical growth of scrotum; Underdeveloped scrotum |
Very frequent |
| Sparse hair |
Reduced density of hairs.
Synonyms:Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth |
Very frequent |
| Tapered finger |
The gradual reduction in girth of the finger from proximal to distal.
Synonyms:Distally tapering fingers; Tapered finger; Tapered fingertips; Tapering fingers |
Very frequent |
| Truncal obesity |
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Synonyms:Centripetal obesity; Truncal obesity |
Very frequent |