Hallermann-Streiff syndrome (HSS) is a very rare genetic disorder that has a characteristic facial appearance, dental abnormalities, hypotrichosis, skin atrophy, proportionate short stature, and ophthalmic features including microphthalmia and congenital bilateral cataracts. The disease was first discussed by Aubry in the late 1800s, but it was documented as a distinct entity by Hallermann in 1948 and Streiff in 1950.
The causative gene for HSS is yet to be determined. Previously, mutations in the GJA1 gene were thought to be contributing to the disease due to a similar phenotype in patients with these mutations. However, the GJA1 mutation phenotype was ultimately recognized to be different from the typical manifestations found in HSS.
Craniofacial – previously described as “bird-like” facies, but this terminology is no longer in use
- Skull abnormalities include: brachycephaly, delayed closure of fontanelles, wide sutures, poor ossification, and mild microcephaly
- Thin, beaked nose with pinched ridge
- Temporomandibular joint abnormalities with underdevelopment or displacement of the condyles or displacement of the disk
- High-arched palate
SKIN AND HAIR
- Hypotrichosis, especially of the scalp, eyebrows, and eyelashes
- Atrophic skin especially of the scalp, forehead, and nose
Ophthalmic -Present in approximately 90% of patients
- Bilateral congenital cataracts and microphthalmia are most frequently observed.
- Other features include: nystagmus, strabismus, conjunctival defects, blue sclera, corneal abnormalities, retinal detachments, chorioretinal atrophy, and peripapillary choroid atrophy
- Missing or deformed teeth
- Premature eruption and persistence of deciduous teeth
- Open bite
- Frequent and/or severe dental caries
- Short stature that is proportionate in relation to head and extremities
- Abnormal ossicles that develop from extra ossification centers within the cranium (i.e., Wormian bones) present between cranial sutures
- Thin ribs and long bones
- Rare, but there are several reported cases of ventricular and atrial septal defects, Tetralogy of Fallot, pulmonic stenosis, and patent ductus arteriosus
- Narrow upper airway
INTELLECTUAL DISABILITY - Majority of patients have normal mental development; however, some have intellectual disability.
Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When is concerned there are many effective medicines available in Homoeopathy , but the selection depends upon the individuality of the patient , considering mental and physical symptoms
Few homoeopathic medicine can be thought of in the treatment of Hallermann-Streiff syndrome are:
medorrhinum, helleborus, hyoscyamus, zincum met., silicea, etc.