Hallermann-Streiff syndrome is a very rare disorder. Cardinal features include craniofacial dysmorphia and upper airway abnormalities.
A bird-like facies, cutaneous atrophy of scalp and nose, hypoplastic nasal foramina, frontal/ parietal bossing, dehiscence of sutures with open fontanellae, hypotrichosis of scalp, eyebrows and eyelashes, microphthalmia, congenital cataracts, blue sclera, nystagmus, mandibular hypoplasia, forward displacement of temporomandibular joints, high-arched palate, small mouth opening and multiple dental anomalies are archetypical for this syndrome.
Patients present with proportionate small stature, scoliosis and hyperextensible joints. Obstructive Sleep Apnoea, tracheomalacia, recurring bronchopulmonary infections and cor pulmonale may be present. Can be associated with congenital heart defects. Mental development may be impaired in some cases. Can also be associated with ADHS and epilepsy.
No causative treatment available.