In simple words: This code describes a group of conditions where a person is much shorter than others their age because of a birth defect.These conditions can affect many parts of the body and are usually caused by genes.Other conditions like Ellis-van Creveld syndrome and Smith-Lemli-Opitz syndrome are not included here.

Q87.1, Congenital malformation syndromes predominantly associated with short stature, encompasses a group of genetic disorders characterized by significantly reduced height compared to peers of the same age and sex.These syndromes often involve multiple systemic abnormalities beyond short stature, potentially affecting various organs and body systems.The underlying cause is typically genetic mutations, leading to varied clinical presentations.Differential diagnoses include conditions like Ellis-van Creveld syndrome (Q77.6) and Smith-Lemli-Opitz syndrome (E78.72), which are specifically excluded from this code.

Example 1: A 5-year-old child presents with significantly reduced height, characteristic facial features (e.g., small jaw, upward-slanting palpebral fissures), and mild intellectual disability.Genetic testing confirms a diagnosis of Noonan syndrome, which predominantly affects multiple systems including short stature, leading to assignment of Q87.1., A newborn exhibits severe growth restriction, hypotonia, and distinctive facial features, suggestive of Russell-Silver syndrome.Further genetic testing confirms the diagnosis, necessitating the use of Q87.1 in medical records., A pediatric patient displays short stature, skeletal abnormalities, and intellectual disability.Initial investigations reveal no other obvious genetic syndromes. Following comprehensive genetic testing and multidisciplinary assessment, Q87.1 is assigned along with additional codes documenting specific associated manifestations.

Detailed patient history encompassing family history of short stature or similar conditions, thorough physical examination with precise measurements of height and weight, imaging studies (X-rays, ultrasound, etc.) to assess skeletal abnormalities, and genetic testing results to confirm the specific diagnosis. Comprehensive documentation of all associated medical findings is crucial for accurate coding.

** The severity and presentation of Q87.1 can vary widely depending on the specific underlying syndrome.Accurate coding requires a thorough understanding of the associated clinical manifestations.Always consult the latest version of the ICD-10-CM coding manual for the most current guidelines and updates.