Peters plus syndrome

Also known as: Krause-Kivlin syndrome, Krause-van Schooneveld-Kivlin syndrome, Peters anomaly-short limb dwarfism syndrome, Peters'-plus syndrome, Peters' plus syndrome

Definition

Genetics Home Reference

Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.

The eye problems in Peters plus syndrome occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part of the eye (iris), and the clear covering of the eye (cornea). An eye problem called Peters anomaly is the most common anterior segment abnormality seen in Peters plus syndrome. Peters anomaly involves abnormal development of the anterior segment, which results in a cornea that is cloudy (opaque) and causes blurred vision. Peters anomaly may also be associated with clouding of the lenses of the eyes (cataracts) or other lens abnormalities. Peters anomaly is usually bilateral, which means that it affects both eyes. The severity of corneal clouding and other eye problems can vary between individuals with Peters plus syndrome, even among members of the same family. Many people with Peters plus syndrome experience vision loss that worsens over time.

All people with Peters plus syndrome have short stature, which is evident before birth. The height of adult males with this condition ranges from 141 centimeters to 155 centimeters (4 feet, 7 inches to 5 feet, 1 inch), and the height of adult females ranges from 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). Individuals with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).

The characteristic facial features of Peters plus syndrome include a prominent forehead; small, malformed ears; narrow eyes; a long area between the nose and mouth (philtrum); and a pronounced double curve of the upper lip (Cupid's bow). The neck may also be broad and webbed. A cleft lip with or without a cleft palate is present in about half of the people with this condition.

Developmental milestones, such as walking and speech, are delayed in most children with Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although some have normal intelligence. The severity of physical features does not predict the level of intellectual disability.

Less common signs and symptoms of Peters plus syndrome include heart defects, structural brain abnormalities, hearing loss, and kidney or genital abnormalities.

Go To Source: Genetics Home Reference

Orphanet

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Abnormality of limb bone morphology Limb abnormality, Arm and/or leg bone differences, Abnormal shape of limb bone [more] Any abnormality of bones of the arms or legs.
Abnormal heart morphology Congenital heart defects, Abnormally shaped heart, Cardiac anomalies, Abnormality of cardiac morphology, Abnormality of the heart [more] Any structural anomaly of the heart.
Rhizomelia Short stature, rhizomelic, Rhizomelic shortening, Rhizomelic dwarfism, Symmetrical rhizomelic limb shortening, Rhizomelic limb shortening, Rhizomelic short limbs [more] Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hypothyroidism Low T4, Underactive thyroid Deficiency of thyroid hormone.
Congenital hypothyroidism A type of hypothyroidism with congenital onset.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Blurred vision Lack of sharpness of vision resulting in the inability to see fine detail.
Short palpebral fissure Decreased height of palpebral fissure, Short opening between the eyelids Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Bicuspid pulmonary valve The presence of a bicuspid pulmonary valve.
Abnormality of the pinna Malformed external ears, Poorly defined conchae, Malformation of auricle, Dysplastic ears, Abnormally shaped ears, Deformed ears, Deformed auricles, Malformed ears, Auricular malformation, Simple ears, Malformed auricles, Minor malformation of the auricles, Abnormal form of ears [more] An abnormality of the pinna, which is also referred to as the auricle or external ear.
Abnormality of cardiovascular system morphology Cardiovascular malformations, Heart defect Any structural anomaly of the heart and great vessels.
Multicystic kidney dysplasia Multicystic renal dysplasia, Multicystic dysplastic kidney 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.
Oral cleft Oral clefting, Cleft lip/palate, Cleft of the mouth, Cleft lip, cleft palate [more] The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Renal dysplasia Dysplastic kidneys, Renal adysplasia The presence of developmental dysplasia of the kidney.
Ureteral duplication Double ureter A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
Limb undergrowth limb shortening, Hypoplasia involving bones of the extremities, Short limb [more] Limb shortening because of underdevelopment of one or more bones of the extremities.
Prominent forehead Protruding forehead, Prominence of frontal region, Pronounced forehead, Bulging forehead [more] Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Cataract Lens opacities, Lens opacity, Cloudy lens [more] A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Renal hypoplasia Underdeveloped kidneys, Small kidneys, Hypoplastic kidney [more] Hypoplasia of the kidney.
Hydronephrosis Severe distention of the kidney with dilation of the renal pelvis and calices.
Corneal opacity Reduction of corneal clarity, Corneal opacities, Corneal clouding [more] A reduction of corneal clarity.
Cleft palate Cleft of hard and soft palate, Palatoschisis, Uranostaphyloschisis [more] Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Peters anomaly A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.
Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Hearing abnormality Abnormal hearing An abnormality of the sensory perception of sound.
Hypoplastic left heart Underdeveloped left heart Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.
Cleft lip Cleft of the lip A gap in the lip or lips.

Other Classifiers and IDs