craniolenticulosutural dysplasia

Cranio-lenticulo-sutural Dysplasia (CLSD) Description

Cranio-lenticulo-sutural dysplasia, also known as Boyadjiev-Jabs syndrome, is a rare autosomal recessive syndrome characterized by specific physical features and developmental delays. The condition is caused by a disorder in the 14th chromosome.

Key Features:

• Large and late-closing fontanels
• Sutural cataracts
• Facial dysmorphisms (abnormal facial structure)
• Skeletal defects

Affected individuals may also exhibit other physical characteristics, such as:

• Abnormal hair growth
• Frontal bossing (a condition where the forehead is prominent)
• Hyperpigmentation with capillary hemangioma of the forehead
• Macrocephaly (an abnormally large head size)
• Significant hypertelorism (abnormally wide-set eyes)

These physical features can vary in severity and may be accompanied by developmental delays or other health issues.

References:

• [1] Cranio-lenticulo-sutural dysplasia is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. (Source: #7)
• [2-4, 8] The condition is caused by a disorder in the 14th chromosome and is associated with large and late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects.
• [9] Affected patients may also exhibit abnormal hair growth, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, macrocephaly, significant hypertelorism, and other physical characteristics.

Signs and Symptoms of Craniolenticulosutural Dysplasia

Craniolenticulosutural dysplasia (CLSD) is a rare genetic disorder characterized by several distinct signs and symptoms. The following are some of the common features associated with CLSD:

• Abnormal Vertebrae: Individuals with CLSD may have abnormal vertebrae, which can be detected through radiological examination [1].
• Facial Dysmorphism: Facial dysmorphism is a hallmark feature of CLSD, characterized by a prominent forehead and brow, high nose bridge, and other distinctive facial features [3][4].
• Late-Closing Fontanels: One of the major diagnostic features of CLSD is the presence of late-closing fontanels, particularly the anterior fontanel [2][9].
• Hypertelorism: Hypertelorism, or an abnormally wide distance between the eyes, is another characteristic feature of CLSD [1][9].
• Ocular Component: The ocular component of CLSD can vary in severity and may include cataracts, among other eye-related abnormalities [6][7][8].

These signs and symptoms can help identify individuals with craniolenticulosutural dysplasia. However, it's essential to consult medical professionals for an accurate diagnosis.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Not applicable (since the query doesn't mention this number) [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9

Based on the provided context, it appears that diagnostic tests for craniolenticulosutural dysplasia (CLSD) are crucial in evaluating this rare condition.

• Skull radiograms: These are typically used to document an ossification defect in later life [7]. This can be a useful tool in diagnosing CLSD.
• Morphological studies: Such as immunofluorescence (IF) and electron microscopy can show specific features of the condition, aiding in diagnosis [7].
• Clinical records and laboratory testing: Collecting and analyzing clinical records, X-ray images, and results of laboratory testing can provide valuable information for a diagnosis [1].

It's essential to note that CLSD is a rare or underdiagnosed condition, as mentioned in [5] and [6]. Therefore, a comprehensive evaluation by a medical professional is necessary to confirm the diagnosis.

In addition to these diagnostic tests, it's also worth mentioning that Quest Diagnostics Incorporated and its affiliated companies are CLIA certified laboratories that provide HIPAA covered services [10]. However, this information does not directly relate to the diagnostic tests for CLSD.

References: [1] - Clinical records, X-ray images and results of laboratory testing were collected and stored in a secure database. [5] - Cranio-lenticulo-sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. [6] - Cranio-lenticulo-sutural dysplasia (CLSD) is a rare dysmorphic syndrome characterized by skeletal dysmorphism, late-closing fontanels, and ... [7] - Skull radiograms typically document an ossification defect in later life. Morphological studies such as immunofluorescence (IF) and electron microscopy can show ...

Current Understanding of Drug Treatment for Craniolenticulosutural Dysplasia

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is a rare autosomal recessive genetic disorder characterized by craniofacial dysmorphisms, ocular defects, and skeletal abnormalities. While there is limited information available on the specific drug treatment for CLSD, research suggests that various medications may be used to manage its symptoms.

• No targeted therapy: Currently, there is no targeted therapy or specific medication approved for the treatment of CLSD.
• Symptomatic management: Treatment for CLSD typically involves symptomatic management of its associated features, such as large and late-closing fontanels, hypertelorism, early-onset cataract, and mild generalized skeletal dysplasia.
• Surgical interventions: In some cases, surgical interventions may be necessary to correct craniofacial abnormalities or other complications associated with CLSD.

Potential Therapeutic Options

While there is no specific drug treatment for CLSD, research suggests that various medications may be used to manage its symptoms. These include:

• Meclozine: A medication already approved by the FDA for use in treating short stature, meclozine has been suggested as a potential therapeutic option for CLSD (Briggs, 2015) [6].
• Other medications: Various other medications may be used to manage symptoms associated with CLSD, such

Cranio-lenticulo-sutural dysplasia (CLSD) diagnosis can be challenging due to its rarity and overlapping symptoms with other conditions.

To establish a differential diagnosis for CLSD, the following conditions should be considered:

• Skeletal dysmorphism: Conditions such as osteogenesis imperfecta, achondroplasia, and cleidocranial dysplasia may present with similar skeletal abnormalities.
  • [3] mentions abnormal hair, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad nasal bridge as diagnostic features of CLSD. These symptoms can also be found in other conditions like osteogenesis imperfecta (OI) [4].
  • OI is characterized by fragile bones, blue sclerae, and skeletal deformities, which may overlap with the skeletal abnormalities seen in CLSD.
• Ocular component: Conditions such as cataracts, microphthalmia, and coloboma can be associated with CLSD. However, the presence of Y-shaped cataracts (as mentioned in [4]) is a distinctive feature of CLSD.
  • The ocular component of CLSD may also be seen in conditions like aniridia, which is characterized by the absence or partial development of the iris.
• Facial dysmorphisms: Conditions such as facial dysmorphism syndrome, Treacher Collins syndrome, and Pierre Robin sequence can present with similar facial abnormalities.
  • [8] mentions facial dysmorphisms as a diagnostic feature of CLSD. These symptoms can also be found in other conditions like facial dysmorphism syndrome.

Other conditions that may be considered in the differential diagnosis for CLSD include:

• Cleidocranial dysplasia: A rare genetic disorder characterized by underdeveloped or absent collarbones, delayed closure of the cranial sutures, and other skeletal abnormalities.
• Osteogenesis imperfecta: A genetic disorder that affects the production of collagen, leading to fragile bones and other skeletal deformities.
• Achondroplasia: The most common form of short-limbed dwarfism, which can present with similar skeletal abnormalities.

It is essential to note that a definitive diagnosis of CLSD requires a comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, pediatricians, and radiologists.

References:

[3] Abnormal hair (coarse, thick, brittle) · Calvarial hypomineralization (soft skull) · Y-shaped cataracts by 1–2 years of age · Skeletal defects · Hypertelorism (wide-set eyes)

[4] Abnormal hair (coarse, thick, brittle) · Calvarial hypomineralization (soft skull) · Y-shaped cataracts by 1–2 years of age · Skeletal defects · Hypertelorism (wide-set eyes)

[8] Facial dysmorphisms as a diagnostic feature of CLSD.