Total 75 clinical symptoms reported for Simpson-Golabi-Behmel syndrome type 1
| Abnormal rib morphology |
An anomaly of the rib.
Synonyms:Abnormality of the ribs; Rib abnormalities; Rib anomalies |
Very frequent |
| 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 |
| 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 |
| Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Very frequent |
| Hypertelorism |
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance |
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; Macrocephalus; Macrocrania; Megacephaly |
Very frequent |
| Macroglossia |
Increased length and width of the tongue.
Synonyms:Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy |
Very frequent |
| Mandibular prognathia |
Abnormal prominence of the chin related to increased length of the mandible.
Synonyms:Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism |
Very frequent |
| Multicystic kidney dysplasia |
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Synonyms:Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia |
Very frequent |
| Postaxial hand polydactyly |
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Synonyms:Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands |
Very frequent |
| Short foot |
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Synonyms:Hypoplastic feet; Short feet; Short foot; Small feet |
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 |
| Splenomegaly |
Abnormal increased size of the spleen.
Synonyms:Increased spleen size; Large spleen |
Very frequent |
| Supernumerary nipple |
Presence of more than two nipples.
Synonyms:accessory mamilla; Accessory nipple; Increased nipple number |
Very frequent |
| Tall stature |
A height above that which is expected according to age and sex norms.
Synonyms:Accelerated linear growth; Increased body height; Increased linear growth; Tall stature |
Very frequent |
| Ventricular septal defect |
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Synonyms:Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD |
Very frequent |
| Vertebral fusion |
A developmental defect leading to the union of two adjacent vertebrae.
Synonyms:Congenital spinal fusion; Congenitally fused vertebrae; Fusion of vertebral bodies; Vertebral body fusion |
Very frequent |
| Vertebral segmentation defect |
An abnormality related to a defect of vertebral separation during development.
Synonyms:Abnormal spinal segmentation |
Very frequent |
| Wide mouth |
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Synonyms:Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth |
Very frequent |