Table 1 Clinical features of Coffin–Lowry syndrome

Neurological manifestations

 Mental retardation

 Developmental delay

 Speech delay

 Generalized congenital hypotonia

 Seizures (5% of patients)

 Drop attacks (20% of patients)

 Sensorineural hearing defect (30% of patients)

 Ventricular dilatation

Growth

 Small stature

 Stooped posture

Facial features

 Macrocephaly

 Broad nose

 Anteverted nares

 Large ears

 Hypertelorism

 Downslanted palpebral fissures

 Thick/everted lips

 Large mouth

 Frontal bossing

 Maxillary hypoplasia

 High vaulted/narrow palate

Limbs

 Large soft hands

 Short puffy tapered fingers

 Hyperextensible joints

 Transverse hypothenar crease

 Forearm fullness

 Flat feet

Thorax

 Pectus caritum/excavatum (80% of patients)

 Kyphosis/scoliosis (80% of patients)

Cardiac

 Mitral regurgitation (15% of patients)

Teeth

 Anodontia/oligodontia

 Abnormal dental position

Radiology

 Drumstick terminal phalanges

 Delayed bone development

 Ligamenta flava calcification

 Narrow intervertebral spaces

 Anterior vertebral body defect

 Thickened skull

Other features

 Hernia