Pfeiffer-type cardiocranial syndrome

Alternate names

Pfeiffer cardiocranial syndrome; Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis; Pfeiffer Singer Zschiesche syndrome; Cardiocranial syndrome, Pfeiffer type; Craniosynostosis-congenital heart disease-intellectual disability syndrome; Pfeiffer-Singer-Zschiesche syndrome; Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis

Definition

Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).

Cause

The etiology remains unknown.

Inheritance

The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes.

Signs and symptoms

Genital and renal anomalies, and various dysmorphic features (hypertelorism, low set ears, dysplastic ears, micrognathia, mandibular ankylosis, syndactyly) may be present. Joint and palpebral abnormalities may also occur.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Global developmental delay
• Intrauterine growth retardation(Prenatal growth deficiency
• Micrognathia(Little lower jaw)
• Sagittal craniosynostosis(Early closure of midline skull joint)
• Temporomandibular joint ankylosis(Freezing of jaw joint)

30%-79% of people have these symptoms

• Abnormal hair whorl(Abnormal hair whorls)
• Abnormal heart morphology(Abnormality of the heart)
• Abnormal trachea morphology
• Bifid uvula
• Broad philtrum
• Contracture of the proximal interphalangeal joint of the 2nd finger
• Cryptorchidism(Undescended testes)
• Cutaneous syndactyly of toes(Webbed skin of toes)
• Deep palmar crease(Deep palm line)
• Dolichocephaly(Long, narrow head)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Episodic tachypnea
• High, narrow palate(Narrow, high-arched roof of mouth)
• Hypertelorism(Wide-set eyes)
• Hypospadias
• Intellectual disability(Mental deficiency)
• Low-set, posteriorly rotated ears
• Micropenis(Short penis)
• Plantar flexion contractures
• Prominent forehead(Pronounced forehead)
• Short stature(Decreased body height)
• Slender finger(Narrow fingers)
• Small hypothenar eminence
• Sparse hair
• Torticollis(Wry neck)
• Umbilical hernia
• Wide nasal bridge(Broad nasal bridge)

Treatment

Management depends on the cardinal manifestations and includes surgery for cranial decompression. Supportive measures should be offered.

NIH genetic and rare disease info

• NIH info on Pfeiffer-type cardiocranial syndrome

Pfeiffer-type cardiocranial syndrome is a rare disease.

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