1,2 Isolated Pierre Robin syndrome (PRS) is a triad comprising retromicrognathia, glossoptosis and posterior U-shaped cleft. DISCUSSIONĪn important step in approaching syndromes of the first and second branchial arches is identification of defects, including cleft lip with or without cleft palate, micrognathia and atresia of the external auditory canal. DIAGNOSISĭifferential diagnosis includes velocardiofacial syndrome (Shprintzen-Goldberg syndrome), Stickler syndrome, and Treacher-Collins syndrome (mandibulofacial dysostosis).
KUB (Figure 4) performed on Day 2 of life demonstrates three things: 1) segmentation of the posterior ribs with apparent pseudoarthroses 2)10 paired ribs and 3) age-appropriate bone mineralization. Axial NECT (Figure 3) shows U-shaped cleft palate. The patient subsequently underwent glossopexy to advance the tongue. Sagittal NECT (Figure 2) demonstrates glossoptosis (ie, posteroinferior displacement of the tongue, causing obstruction of the oropharynx). Note the zygomatic arch and external auditory canal are preserved. Three-dimensional CT reconstructions of the mandible (Figures 1, A and B) reveal prominent retromicrognathia. If you have an inherited disorder, a genetic counselor can tell you how likely you are to pass it on to your child.A 2990-g, full-term, baby girl with multiple congenital anomalies was born to a G4P2 mother. There’s no direct way to prevent micrognathia, and many of the underlying conditions that cause it can’t be prevented. Early diagnosis and ongoing monitoring help doctors determine if medical or surgical intervention is needed to ensure the best outcome for your child. Your child’s doctor can tell you what the outlook is based on your child’s specific condition. Babies with certain conditions, such as achondrogenesis or trisomy 13, only live for a short time.Ĭhildren with conditions such as Pierre Robin syndrome or Treacher Collins syndrome can live relatively normal lives with or without treatment. Ultimately, the outlook depends on the condition that caused micrognathia. If your child’s jaw grows longer on its own, feeding problems usually stop.Ĭorrective surgery is generally successful, but it can take 6 to 12 months for your child’s jaw to heal. In addition to a small jaw, it can also cause a cleft palate, absent cheekbones, and malformed ears.
Treacher Collins syndrome is a hereditary condition that causes severe facial abnormalities. The name derives from the high-pitched, cat-like cry that babies with this condition make. Cri-du-chat syndromeĬri-du-chat syndrome is a rare genetic condition that causes developmental disabilities and physical deformities, including a small jaw and low-set ears. In addition to a small jaw, children with progeria may also have a slow growth rate, hair loss, and a very narrow face. It’s due to a genetic mutation, but it’s not passed down through families. Babies with progeria typically don’t show signs when they’re born, but they start showing signs of the disorder within the first 2 years of their life. Progeria is a genetic condition that causes your a child to age at a rapid rate. This causes severe bone problems, including a small lower jaw and a narrow chest. AchondrogenesisĪchondrogenesis is a rare inherited disorder in which your child’s pituitary gland doesn’t make enough growth hormone.
The number, such as 13 or 18, refers to which chromosome the extra material comes from. A trisomy causes severe mental deficiencies and physical deformities.Īccording to the National Library of Medicine, about 1 in every 16,000 babies has trisomy 13, also known as Patau syndrome.Īccording to the Trisomy 18 Foundation, around 1 in 6,000 babies has trisomy 18 or Edwards syndrome, with the exception of those who are stillborn. Trisomy 13 and 18Ī trisomy is a genetic disorder that occurs when a baby has extra genetic material: three chromosomes instead of the normal two. It occurs in about 1 in 8,500 to 14,000 births. These babies may also be born with an opening in the roof of their mouth (or cleft palate). It also causes the baby’s tongue to fall backward into the throat, which can block the airways and make breathing difficult. Pierre Robin syndrome causes your baby’s jaw to form slowly in the womb, which results in a very small lower jaw. Here are a number of genetic syndromes that are associated with micrognathia: Pierre Robin syndrome
Some cases of micrognathia are due to inherited disorders, but in other cases, it’s the result of genetic mutations that occur on their own and don’t pass down through families. Most cases of micrognathia are congenital, which means that children are born with it.
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