Difference between BPES and Ohdo (and other syndromes)

[Guest guest]

Hi

For the avoidance of doubt, you may like to see how the medical profession define BPES, Ohdo, and other syndromes.

I hope that this information helps. There is a group for Ohdo Syndrome. My friend Pat Seville has set up that group and runs it.

Regards

Shireen

--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------

(BPES is an Acronym for: Blepharophimosis, Ptosis, Epicanthus inversus.)

BPES

Disease characteristics. Classic blepharophimosis syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two types of blepharophimosis syndrome have been described: BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF); BPES type II includes only the four major features. Other ophthalmic manifestations associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic disease-causing mutation are expected to have normal intelligence.

Clinical Diagnosis

The diagnosis of blepharophimosis syndrome (BPES) is based primarily on four clinical findings, which are present at birth [Oley & Baraitser 1995]:

Blepharophimosis: Narrowing of the horizontal aperture of the eyelids. In normal adults, the horizontal palpebral fissure measures 25-30 mm; in individuals with BPES, it generally measures 20-22 mm. Ptosis: Drooping of the upper eyelid causing a narrowing of the vertical palpebral fissure. In individuals with BPES, ptosis is secondary to dysplasia of the musculus levator palpebrae superioris. To compensate for the ptosis, affected individuals:

Use the musculus frontalis, wrinkling the forehead to draw the eyebrows upward, which results in a characteristic facial appearance

Tilt their head backward into a chin-up position

Epicanthus inversus: A skinfold arising from the lower eyelid and running inwards and upwards. Telecanthus: Lateral displacement of the inner canthi with normal interpupillary distance.

Two types of blepharophimosis syndrome have been described [Zlotogora et al 1983]:

BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF). BPES type II includes only the four major features.

--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------

Now, here is some info about Ohdo (it is not an acronym, it is named after a doctor called "Mr Ohdo".)

As you can see, in many cased each of the syndromes listed below has only 1 or 2 of the main characteristics of BPES.

---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------

Table 2. Overview of Conditions in which Ptosis and/or Blepharophimosis are Prominent Features

Syndrome

Inheritance 1

Characteristics

OMIM

Hereditary congenital ptosis 1 (PTOS1)

AD

Ptosis

178300

Hereditary congenital ptosis 2 (PTOS2)

XL

Ptosis

300245

Ohdo blepharophimosis syndrome

AD 2

Blepharophimosis Blepharoptosis Mental retardation Congenital heart defects Hypoplastic teeth

249620

Michels syndrome

Blepharophimosis Blepharoptosis Epicanthus inversus Ophthalmic anterior segment defects (cornea) Cleft lip/palate Minor skeletal abnormalities

257920

Ptosis with external ophthalmoplegia

AR

Ptosis Ophthalmoplegia Miosis Decreased accommodation Strabismus Amblyopia

258400

Noonan syndrome

AD

Ptosis Short stature Heart defects Blood clotting deficiencies

163950

Marden- syndrome

AR

Ptosis Blepharophimosis Growth retardation Neurologic defects (mental retardation, absent primitive reflexes)

248700

Schwartz-Jampel syndrome

Intermittent ptosis Blepharophimosis Telecanthus Cataract Short stature Cartilage and skeletal anomalies Muscle hypertrophy

255800

Dubowitz syndrome

Ptosis Blepharophimosis Lateral telecanthus Short stature Mental retardation Immunologic deficiencies

223370

-Lemli-Opitz syndrome

Ptosis Epicanthus Cataract Growth and mental retardation Severe genitourinary, cardiac, and gastrointestinal anomalies

270400

Oley & Baraitser 1995 , OMIM1. AD=autosomal dominant; AR=autosomal recessive, XL=X-linked2. Presumed mode of inheritance