What's on this Page
IHPRF syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, inherited neurodevelopmental disorder characterized by profound and persistent hypotonia starting in infancy, marked global developmental delay, and severe intellectual disability.
- Affected individuals typically exhibit minimal to no speech development and significant motor impairments, including inability or difficulty with rolling, sitting, or walking. Failure to thrive is common.
- Additional features may include microcephaly, progressive peripheral spasticity, bilateral strabismus, nystagmus, and constipation. Distinctive facial characteristics can include plagiocephaly, a broad forehead, small nose, low-set ears, micrognathia, and an open mouth with a tented upper lip.
Synonyms
- Infantile hypotonia-psychomotor retardation-characteristic facies syndrome
- Hypotonia-speech impairment-severe cognitive delay syndrome
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
What are the symptoms of IHPRF syndrome?
Very frequent symptoms
- Absent speech
- Delayed speech and language development
- Esotropia
- Global developmental delay
- Infantile muscular hypotonia
- Intellectual disability, severe
- Motor delay
- Strabismus
- Tapered distal phalanges of finger
Frequent symptoms
- Abnormal facial shape
- Anteverted nares
- Arachnodactyly
- Cachexia
- Constipation
- Downslanted palpebral fissures
- Dyskinesia
- EEG abnormality
- Enlarged naris
- Feeding difficulties
- Frontal bossing
- Hyperesthesia
- Hypotonia
- Low-set, posteriorly rotated ears
- Microcephaly
- Micrognathia
- Neonatal hypotonia
- Plagiocephaly
- Prominent nasal bridge
- Scoliosis
- Seizure
- Severe failure to thrive
- Short philtrum
- Short stature
- Small hand
- Smooth philtrum
- Talipes equinovarus
- Tented upper lip vermilion
- Thin upper lip vermilion
- Triangular face
- Wide nasal bridge
Occasional symptoms
- Axial hypotonia
- Conspicuously happy disposition
- EMG: myopathic abnormalities
- Elbow flexion contracture
- Hip contracture
- Hypoplasia of the corpus callosum
- Intrauterine growth retardation
- Knee flexion contracture
- Nasogastric tube feeding in infancy
- Nystagmus
- Obstructive sleep apnea
- Self-injurious behavior
- Short neck
- Sleep abnormality
- Spastic tetraplegia
