Seaver Cassidy syndrome is a very rare disorder characterized by a series of congenital symptoms, including certain facial, genital, and skeletal deformities as well as an unusual susceptibility to bleeding. Seaver Cassidy syndrome was first described in 1991 by Laurie Seaver and Suzanne Cassidy.

Symptoms

Symptoms of Seaver Cassidy syndrome include several facial disorders, including hypertelorism

Hypertelorism

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits . In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal...

 and telecanthus

Telecanthus

Telacanthus refers to increased distance between the medial canthi of the eyes, while the inter-pupillary distance is normal...

, epicanthal fold

Epicanthal fold

An epicanthic fold, epicanthal fold, or epicanthus is a skin fold of the upper eyelid, covering the inner corner of the eye....

s, downslanting palpebral fissure

Palpebral fissure

Palpebral fissure is the anatomic name for the separation between the upper and lower eyelids. In adults, this measures about 10mm vertically and 30mm horizontally.It can be reduced in horizontal size by fetal alcohol syndrome and in Williams Syndrome...

s, ptosis

Ptosis (eyelid)

Ptosis is a drooping of the upper or lower eyelid. The drooping may be worse after being awake longer, when the individual's muscles are tired. This condition is sometimes called "lazy eye", but that term normally refers to amblyopia...

, a broad nasal bridge, malar hypoplasia

Asymmetric crying facies

Asymmetric crying facies , also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of...

, a thin upper lip, a smooth philtrum

Philtrum

The philtrum , is a medial cleft common to many mammals, extending from the nose to the upper lip, and, together with a glandular rhinarium and slit-like nostrils, is believed to constitute the primitive condition for mammals in general...

, and low-set, prominent ears. Males with Seaver Cassidy syndrome may also experience an underdeveloped shawl scrotum

Shawl scrotum

Shawl scrotum is a condition in which the scrotum surrounds the penis, resembling a 'shawl'.It is a characteristic of some syndromes such as Aarskog-Scott syndrome , Rubenstein-Taybi syndrome, craniofrontonasal dysplasia, Hunter Carpenter McDonald Syndrome, Naguib Syndrome, Saito Kuba Tsuruta...

 and cryptorchidism

Cryptorchidism

Cryptorchidism is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at...

. Skeletal anomalies, such genu valgum

Genu valgum

Genu valgum, commonly called "knock-knee", is a condition where the knees angle in and touch one another when the legs are straightened. Women have a wider pelvis than men and a relatively shorter length of the thigh bone, and as a result, have a greater static genu valgum than men...

, hyperextended joints, or cubitus valgus

Cubitus valgus

Cubitus valgus is a medical deformity in which the elbows are turned in. A small degree of cubitus valgus is acceptable and occurs in the general population....

, may also be present.

External Links

• Seaver Cassidy syndrome at the Office of Rare Diseases
• Seaver Cassidy syndrome at RightDiagnosis