IllnessOtopalatodigital syndrome

NGS +

Short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial + appendicular skeleton resulting in impaired speech + masticatory problems; mild intellectual disability, conductive hearing loss, typical facial anomalies

Otopalatodigital syndrome type 1: mildest form of otopalatodigital syndrome spectrum disorder, generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, typical facial anomalies

Otopalatodigital syndrome type 2: severe form with dysmorphic facies, severe skeletal dysplasia affecting the axial + appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, intestine), poor survival

• Alias: Otopalatodigital syndrome spectrum disorder; Cranioorodigital syndrome
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
• Allelic: Melnick-Needles osteodysplasty; OPD spectrum
• Allelic: Terminal osseous dysplasia (FLNA)
• Otopalatodigital syndrome, type 1 + II (FLNA)