Medical Information

A Closer Look: 
Medical Summaries on Each Type of Primordial Dwarfism

In general, different syndromes have their own respective physical, mental and developmental findings. However these are not clearly defined in many of the forms of primordial dwarfism. In addition to the severity of growth delay itself, many of the clinical health findings vary while others are very similar. Many affected individuals are referred to as having primordial dwarfism because a more specific diagnosis within this category is difficult. However, the clinical findings generally associated with each of the different syndromes included within the category of primordial dwarfism are outlined in more detail in the following section. Feel free to use our genetic glossary to better understand the descriptions. Also, please remember that no individual has every symptom of a condition, nor must they develop all of them. Every person is different. 

If you have any questions, feel free contact us at PDFamilyNetwork@gmail.com. We are happy to assist you in any way that we can.

Primordial Dwarfism: Common Syndromes

SECKEL SYNDROME

In 1960, H.P.G. Seckel first defined Seckel syndrome, on the basis of two personal patients and 13 cases reported in the literature since the 18th century.

What are the major features of Seckel syndrome?

Individuals with Seckel syndrome have very short stature with microcephaly (smaller head than average). Growth is well below the 5th percentile on standard growth charts. Growth delay starts prenatally, which may be identified on fetal ultrasound. This could be called intrauterine growth retardation (IUGR) or small for gestational age (SGA). The average birth weight for someone with Seckel syndrome is 1540g or 3 pounds 6 ounces. 

There are many skeletal findings associated with Seckel syndrome that can be seen on X-ray. Some include delayed bone age, scoliosis, hip dislocation and radial head dislocation. 

Many children or adults with Seckel syndrome have neurological issues, like seizures or differences in the brain noted on MRI or CT scan. 

In addition, some individuals will have anemia and/or other hematologic abnormalities like pancytopenia. 

OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (ODPDI)

Also called Majewsky’s Microcephalic Osteodysplastic Primordial Dwarfism, Type I (MOPD1).

What are the major features of ODPDI?

Individuals with ODPDI have short stature with microcephaly (smaller head than average). Growth delay starts prenatally (during pregnancy). This could be called intrauterine growth retardation (IUGR) or small for gestational age (SGA). After birth, “failure to thrive” is often noted.

Many children with ODPDI will have sparse hair, including scalp hair, eyebrows and eyelashes.

There are many skeletal findings associated with ODPDI that can be seen on X-ray. Some include reduced height of the vertebrae, long clavicles, bowed femora or hip dislocation. 

Many children have neurological issues or differences in the brain seen on MRI, like agenesis of corpus callosum.

Many children have recurrent apnea and seizures. 

OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (ODPDII)

Also called Majewsky’s Microcephalic Osteodysplastic Primordial Dwarfism, Type II (MOPDII).

What are the major features of ODPDII?

Growth
Individuals with ODPDII have short stature with microcephaly (smaller head than average). 

Growth delay starts prenatally (before birth), which can be identified via fetal ultrasound. This could be called intrauterine growth retardation (IUGR) or small for gestational age (SGA). Most babies with ODPDII are less than 1500 grams or 3.3 pounds. In addition, many children with ODPD are born prematurely, either spontaneously or induced due to evidence of fetal distress. 

There is also severe postnatal (after birth) growth delay. Children continue to be way behind their peers in terms of growth, well below the 3rd percentile on standard growth charts. Most children do not reach the size of the “average” newborn until 2-5 years of age. 

Skeletal Findings

Individuals with ODPDII might have any of the following found on X-ray:

• Progressive (occurring over time) widening of metaphysis (part of your bones) noted on X-ray. This can be very subtle and may not be obvious unless under strict review by an experienced radiologist.

• Delayed and disharmonic bone age

• Dislocated joints in the elbows, knees or hips

• Scoliosis (can develop during childhood)

Additional Health Information

• Many children have high squeaky voice

• Many children have small teeth (microdontia) and/or widely spaced primary teeth 

• Many children may have difficulty feeding as infants

• Feeding and respiratory problems are common in first year of life, but then are usually outgrown.

• Many children have frequent illness or infection. 

• Some children have delayed developmental milestones in early childhood

• In reference to behavior, some young children can appear to be easily distractible or hyperactive

• Poor sleep patterns are common in the first few years of life.

• Some individuals have experienced farsightedness (hyperopia) beginning earlier in life

• There is a minimal response to growth hormone therapy. Usually growth hormone levels are normal when measured.

• Some children develop vascular malformations in the central nervous system
  

MEIER-GORLIN SYNDROME

Also called………..

• Ear, Patella, Short Stature syndrome (EPS)

• Microtia, Absent Patellae, Micrognathia syndrome

Meier (1959) and Gorlin (1975) were the first to describe patients with this syndrome. It has been described as a syndrome of short stature including bilateral microtia and absent patellae (kneecaps). 

In the past, Meier-Gorlin syndrome has been compared and contrasted with some forms of primordial dwarfism, particularly Seckel syndrome and ODPD II. Many similarities between these conditions can be seen when individuals are very young. Similarities include low birth weight, microcephaly (smaller head size than average), short stature and delayed bone age. Due to this, the diagnosis of Seckel syndrome or ODPDII has been considered in many patients with Meier-Gorlin syndrome. 

What are the major features of Meier-Gorlin syndrome?

Individuals with Meier-Gorlin syndrome have short stature. Poor weight gain is common. However, final height exceeds that of individuals with Seckel syndrome and the other osteodyplastic types of primordial dwarfism. 

Individual with Meier-Gorlin have small ears for their size. 

Absent kneecaps and delayed bone age may be noted on X-ray.

Among other findings, curved clavicles, flat epiphyses, elbow dislocation, and slender ribs and long bones may also be noted on X-ray. 

RUSSELL-SILVER SYNDROME

Russell-Silver Syndrome (RSS) is also known as Silver-Russell Syndrome, Silver Syndrome, and Russell Syndrome. Children with RSS, like children with primordial dwarfism, also have prenatal and postnatal growth delay. Due to this, a broad diagnosis of primordial dwarfism may be considered before reaching a final diagnosis of Russell-Silver syndrome. On the other hand, a diagnosis of RSS may be considered before reaching a final diagnosis of ODPD. Although there may be many similarities in early childhood, RSS is very different from Seckel syndrome and the osteodysplastic types of primordial dwarfism. Individuals with RSS have a final height that exceeds that of Seckel syndrome and the osteodysplastic types of primordial dwarfism. If your child has RSS or you think your child may have RSS, you may want to visit the Russell-Silver webpage found as part of the Magic Foundation. http://www.magicfoundation.org/rss.html. Much of the following information about Russell-Silver syndrome was taken from this website. 


Most individuals with RSS have:

• Low birth weight and decreased birth length

• Postnatal growth delay

• “Triangular” shaped face (lessens with age)

• Normal head size for age but appearing large because of smaller body length and weight

• Poor appetite in early years

Common characteristics in many children include:

• Hypoglycemia (low blood sugar) in infancy and early childhood (2-3 years)

• Late closure of the fontanel (soft spot)

• Broad appearing forehead

• Small chin

• Thin upper lip

• Crowding of the teeth or small teeth

• High-pitched voice which usually disappears later in life

• Syndactyly (webbing) of the toes. The degree of degree of webbing varies.

• Hypospadius (abnormal location of urethral opening)

• Cryptorchidism (undescended testicles)

• Delayed bone age

• Weak muscle tone

Previous  Next