Note characteristic fetal face, hypogenitalism and brachydactyly of hands and feet. X-ray upper limbs and hands showing mesomelic shortening and brachydactyly (A), gingival hyperplasia (B) and X-ray vertebrae showing hemivertebrae and vertebral fusion.<unk>  noted the resemblance of affected patients' faces to that of a fetus, using the term "fetal facies" to describe the appearance of a small face and widely spaced eyes. Clinical features also may include a short, upturned nose, a prominent forehead, and a flat nasal bridge. The upper lip may be "tented", exposing dental crowding, "tongue tie", or gum hypertrophy. Though the eyes do not protrude, abnormalities in the lower eyelid may give that impression. Surgery may be necessary if the eyes cannot close fully. In addition, the ears may be set low on the head or have a deformed pinna. Patients suffer from dwarfism, short lower arms, small feet, and small hands. Fingers and toes may also be abnormally short and laterally or medially bent. The thumb may be displaced and some patients, notably in Turkey, experience ectrodactyly. All patients often suffer from vertebral segmentation abnormalities. Those with the dominant variant have, at most, a single butterfly vertebra. Those with the recessive form, however, may suffer from hemivertebrae, vertebral fusion, and rib anomalies. Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis. Genital defects characteristically seen in males include a micropenis with a normally developed scrotum and testes. Sometimes, testicles may be undescended, or the patient may suffer from hypospadias. Female genital defects may include a reduced size clitoris and underdeveloped labia minora. Infrequently, the labia majora may also be underdeveloped. Some research has shown that females may experience vaginal atresia or haematocolpos. The autosomal recessive form of the disorder tends to be much more severe. Examples of differences are summarized in the following table: Characteristic Autosomal recessive Autosomal dominant Stature Shorter stature -2 SD or less Short or normal Arms Very short Slightly short Elbow Radial head dislocation No radial head dislocation Upper lip Tented upper lip Normal upper lip Mortality rate 10% mortality No excess mortality Associated conditions Medical conditions include frequent ear infection, hearing loss, hypotonia, developmental problems, respiratory problems, eating difficulties, light sensitivity, and esophageal reflux. Data on fertility and the development of secondary sex characteristics is relatively sparse. It has been reported that both male and female patients have had children. Males who have reproduced have all had the autosomal dominant form of the disorder; the fertility of those with the recessive variant is unknown. Researchers have also reported abnormalities in the renal tract of affected patients. Hydronephrosis is a relatively common condition, and researchers have theorized that this may lead to urinary tract infections. In addition, a number of patients have suffered from cystic dysplasia of the kidney. A number of other conditions are often associated with<unk> . About 15% of reported patients suffer from congenital heart defects. Though there is no clear pattern, the most common conditions include pulmonary stenosis and atresia. In addition, though intelligence is generally normal, around 15% of patients show developmental delays.
Robinow syndrome
Pallister–Hall syndrome
Foster Kennedy syndrome
Krabbe disease
Poland syndrome
Dorian Gray syndrome
Cantú syndrome
Kenny-Caffey syndrome