achondrogenesis type II

Achondrogenesis type II, also known as Langer-Saldino type, is a rare and lethal skeletal dysplasia characterized by severe shortening of the arms and legs in relation to the trunk.

Key Features:

• Short arms and legs [1]
• Narrow chest with short ribs [2]
• Severe micromelia (shortening of limbs) [5]
• Small chest and prominent abdomen [5]
• Incomplete ossification of vertebral bodies [5]

Additional Characteristics:

• Unusual facial features, including:
  • Prominent forehead [9]
  • Small chin [9]
  • Cleft palate [9]
• Lung hypoplasia (underdeveloped lungs) [4]
• High frequency of stillbirth or early neonatal death [6]

Prevalence: Achondrogenesis type II is an uncommon skeletal dysplasia, occurring at a frequency of approximately 0.2 per 100,000 births [6].

References:

[1] Context result 3 [2] Context result 1 [4] Context result 4 [5] Context result 5 [6] Context result 6 [9] Context result 9

Characteristics of Achondrogenesis Type II

Achondrogenesis type II, also known as Langer-Saldino syndrome, is a rare and severe form of skeletal dysplasia characterized by significant shortening of the arms and legs in relation to the trunk. The condition is marked by several distinctive features, including:

• Short arms and legs: Infants with achondrogenesis type II have significantly shorter limbs compared to their body size.
• Narrow chest with short ribs: The chest cavity is narrow, and the ribs are short, which can lead to lung hypoplasia (underdeveloped lungs).
• Small chin: A small or receding chin is a common feature of achondrogenesis type II.
• Cleft palate: In some cases, an opening in the roof of the mouth (cleft palate) may be present.

These physical characteristics are often accompanied by other symptoms, including:

• Thin ribs: The ribs may appear thin or fragile due to incomplete ossification.
• Flat vertebrae: The vertebral bodies may be flat or underdeveloped.
• Underdeveloped lungs: Lung hypoplasia can lead to breathing difficulties and respiratory problems.

It's essential to note that achondrogenesis type II is a rare and severe condition, and the symptoms mentioned above are not exhaustive. If you suspect someone has this condition, it's crucial to consult with a medical professional for an accurate diagnosis and proper care.

References:

• [3] Infants with achondrogenesis type 2 have short arms and legs, a narrow chest with short ribs, and ...
• [6] Signs and symptoms​​ The characteristic features of achondrogenesis type 2 are short arms and legs, a tiny chest with short ribs, lung hypoplasia, a small chin, ...
• [7] Oct 20, 2024 — Achondrogenesis type II symptoms: Narrow chest; Smaller arms or legs; Thin ribs; Flat vertebra; Underdeveloped lungs; Small chin; Cleft palate ...

Achondrogenesis type II, also known as Langer-Saldino syndrome, is a rare and severe form of skeletal dysplasia that affects cartilage and bone development. Diagnostic tests for this condition typically involve a combination of the following:

• Prenatal ultrasound examination: Achondrogenesis type II can be detected by prenatal ultrasound as early as week 14-17 of gestational age [2].
• Postnatal radiographic examination: Radiographic findings are crucial in distinguishing achondrogenesis from other skeletal dysplasias. This examination is typically used to confirm the diagnosis and rule out other conditions [1].
• Genetic testing: Genetic analysis can provide a molecular diagnosis of achondrogenesis type II, especially for individuals with a personal and/or family history of this disorder [6]. Recommended genetic tests include COL2A1 sequencing.
• Ultrasound imaging: Ultrasound assessments are often used in conjunction with radiographic findings to confirm the diagnosis [5].
• Clinical evaluation: A thorough clinical evaluation is necessary to assess the severity of the condition and identify any associated symptoms.

It's worth noting that achondrogenesis type II is a rare and severe disorder, and diagnostic tests should be performed by experienced healthcare professionals in a specialized setting.

Unfortunately, there are no specific drug treatments available for achondrogenesis type II, a rare and lethal skeletal dysplasia.

According to search result [5], achondrogenesis type 2 is characterized by severe micromelia, among other symptoms. However, there is limited information on effective treatment options for this condition.

Search result [4] mentions that achondrogenesis type 2 is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, and other severe symptoms. Unfortunately, no specific treatments are mentioned in this context.

It's worth noting that vosoritide, a drug approved for treatment of achondroplasia (a different condition), has been explored as a potential treatment option [6]. However, its effectiveness for achondrogenesis type II is not clear.

Search result [7] states that no treatment can cure achondrogenesis, and in most cases, the baby dies before or shortly after birth. Sometimes the baby is stillborn.

In summary, while there are some general statements about treatments for related conditions, there is limited information on specific drug treatments available for achondrogenesis type II.

References: [4] by P Dogan · 2019 · Cited by 4 [5] Oct 14, 2024 [6] by B Fafilek · 2022 · Cited by 12 [7] Feb 7, 2020

Achondrogenesis type II, also known as Langer-Saldino achondrogenesis, is a rare autosomal dominant skeletal dysplasia. When considering the differential diagnosis for this condition, several other conditions should be taken into account.

• Osteogenesis imperfecta: This condition is characterized by fragile bones and often presents with similar features to achondrogenesis type II.
• Thanatophoric dysplasia: A severe form of short-limbed dwarfism that can be confused with achondrogenesis type II due to its similar radiographic findings.
• Hypophosphatasia: A rare genetic disorder that affects bone mineralization and can present with extreme ossification of tubular bones, making it a differential diagnosis for achondrogenesis type II.
• Chondrodysplasia punctata: A group of rare skeletal disorders characterized by abnormal cartilage formation and calcification, which can be confused with achondrogenesis type II due to its similar radiographic findings.
• Short-rib polydactyly: A rare genetic disorder that affects the development of short ribs and can present with similar features to achondrogenesis type II.
• Jeune syndrome: A rare genetic disorder that affects the development of short ribs and can be confused with achondrogenesis type II due to its similar radiographic findings.
• Ellis-van Creveld syndrome: A rare genetic disorder that affects the development of short limbs and can present with similar features to achondrogenesis type II.

These conditions should be considered in the differential diagnosis of individuals presenting with radiographic evidence of severe skeletal dysplasia, as they can all present with similar features to achondrogenesis type II [3][5][7].

References: [1] - Achondrogenesis type II is a rare autosomal dominant skeletal dysplasia. (Context 2) [2] - Other close differential diagnoses of this condition include ... (Context 2) [3] - The differential diagnosis of achondrogenesis should consider other conditions that may have similar features such as osteogenesis imperfecta, thanatophoric dysplasia, hypophosphatasia, chondrodysplasia punctata, short-rib polydactyly, Jeune syndrome, and Ellis-van Creveld syndrome. (Context 2) [5] - Other diagnoses include hypo-phosphatasia, which presents with extreme ossifi-cation of tubular bones, thanatophoric dysplasias type 1 and 2, Schneckenbecken dysplasia, and spondyloepiphyseal dysplasia congenita (Spra-nger et al ...). (Context 15)