Year: 2026
Type: article
Study design: Case Report
Abstract: At the molecular level, Cantú syndrome is primarily caused by heterozygous missense mutations in the ABCC9 gene.Most of these pathogenic variants are shown to arise de novo [1][2][3]. Case PresentationA 6-year and 2-month-old girl was initially referred from primary care to the Pediatric Endocrinology department for Summary Cantú syndrome, or hypertrichotic osteochondrodysplasic, is a rare genetic disorder characterized by generalized hypertrichosis, macrosomia, cardiomegaly, and distinctive coarse facial features.We report the case of an 8-year-old girl with Cantú syndrome presenting for growth assessment and evaluation of early body hair development.This case highlights the clinical challenges of distinguishing syndromic hypertrichosis from premature pubarche and emphasizes the necessity for multidisciplinary and targeted endocrine monitoring.Introduction and Clinical Features Cantú syndrome is a rare genetic disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasic, and cardiomegaly [1-2].Certain features, such as macrocephaly, coarse facial features, and a broad nasal bridge, can initially suggest a metabolic storage disorder.While approximately half of affected individuals are macrosomic and edematous at birth, they typically develop a fit, muscular appearance with minimal subcutaneous fat during childhood.Skeletal anomalies frequently include a narrow thorax, broad ribs, coxa valga, osteopenia, and metaphyseal widening of the long bones [3][4].Cardiac involvement is reported in about 80% of cases and may include patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions.Over time, the facial phenotype naturally evolves; the face lengthens, the forehead becomes taller, and the supraorbital ridges become more prominent [5,6].The Clinical Challenge of Hypertrichosis (Hirsutism) A defining and cosmetically challenging hallmark of Cantú syndrome is generalized congenital hypertrichosis.This manifests as thick scalp hair extending onto the forehead, accompanied by a profound, generalized increase in body hair.In clinical practice, this excessive hair growth often mimics severe hirsutism and can be particularly striking in early childhood.Managing this hypertrichosis presents a significant problem because it is a genetically driven structural anomaly rather than a simple, easily reversible endocrine imbalance.Consequently, standard dermatological or hormonal treatments for hirsutism are generally ineffective.However, long-term followup indicates that as the patient ages and their facial structure lengthens, the facial pattern becomes much less striking and naturally less noticeable over time [7,8].Inheritance Although early reports suggested an autosomal recessive inheritance pattern due to sibling recurrence, subsequent segregation analyses and documented cases of male-to-male and mother-to-daughter transmission firmly established that Cantú syndrome follows an autosomal dominant inheritance pattern [2,4,7].
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7204766077