Hallermann-Streiff Syndrome

Hallermann-Streiff syndrome was independently

described by Hallermann in 1948 and Streiff in 1950.

The syndrome is characterized by proportionate short

stature, craniofacial dysostoses consisting of skeletal,

ophthalmologic, and cutaneous defects.

Synonyms and Related Disorders

Francois dyscephalic syndrome

Genetics/Basic Defects

1. Sporadic in virtually all cases

2. Inheritance pattern unknown

Clinical Features

1. Characteristic craniofacial features

a. Dyscephaly (malformation of the cranium and

bones of the face) (89–90%)

i. Calvarium

a) Brachycephaly

b) Thin calvarium

c) Delayed closure of fontanelles

d) Wide cranial sutures

ii. Cranial base

a) Platybasia

b) Depressed sella

c) Elevated anterior cranial fossa

iii. Parrotlike face

a) A beaked nose

b) Hypoplastic mandible

b. Hypotrichosis (80–82%)

i. Alopecia

a) Characteristic sutural alopecia (hair

loss following the lines of the cranial

sutures)

b) Frontal alopecia

c) Alopecia at the scalp margins

ii. Hypotrichosis involving the eye-brows and

eyelashes

iii. Brittle and sparse scalp hair

c. Cutaneous atrophy (68–70%)

i. Face

ii. Scalp

d. Ocular abnormalities

i. Congenital cataracts (81–90%)

ii. Microphthalmos (78–83%)

iii. Nystagmus

iv. Strabismus

v. Glaucoma

vi. Blue sclerae

vii. Fundal anomalies

viii. Conjunctival defects

ix. Corneal abnormalities

x. Down slanting palpebral fissures

xi. Intraocular hypertension

xii. Lower lid coloboma

xiii. Iris atrophy

xiv. Persistent pupillary membrane

xv. Enophthalmos

xvi. Bilateral retinal detachments (Haque et al.

2009)

xvii. Epicanthal folds

e. Mouth

i. Microstomia

ii. Narrow/high-arched palate

H. Chen, Atlas of Genetic Diagnosis and Counseling, DOI 10.1007/978-1-4614-1037-9_112,# Springer Science+Business Media, LLC 2012

993

iii. Dental abnormalities (80–85%)

a) Natal teeth

b) Partial anodontia/hypoplasia

c) Persistent deciduous teeth

d) Irregular implantation of the teeth

e) Anterior open bite

2. Musculoskeletal abnormalities

a. Proportionate short stature (45–69%)

b. Syndactyly

c. Lordosis

d. Scoliosis

e. Spina bifida

f. Winged scapulae

g. Hyperextensible joints including temporoman-

dibular joints

h. Hip dislocation

i. Periodic osteoporosis

3. Other abnormalities

a. Mild to severe mental retardation (15%)

b. Calcified falx cerebri

c. Neurologic abnormalities

i. Neurofibromatosis

ii. Epilepsy

d. Genital anomalies (10–12%)

i. Hypogenitalism

ii. Cryptorchidism

iii. Hypospadias

iv. Subseptate uterus

v. Clitoral hypertrophy

e. Cardiac defects (2–9%)

i. Pulmonic stenosis

ii. Atrial septal defect

iii. Ventricular septal defect

iv. Patent ductus arteriosus

v. Tetralogy of Fallot

f. Endocrinological abnormalities

i. Immune deficiency

ii. Hypoparathyroidism

iii. Hypothyroidism

iv. Hypopituitarism

g. Ear anomalies (9%)

h. Hematopoietic abnormalities (7%)

i. Pulmonary anomalies (3%)

i. Obstructive sleep apnea

ii. Tracheomalacia

iii. Recurrent pulmonary infections

iv. Cor pulmonale

j. Gastrointestinal abnormalities (3%)

k. Muscular hypotrophy (3%)

l. Hepatic anomalies (2%)

m. Renal anomalies (1–2%): bilateral duplication

of renal collecting system

4. Prognosis

a. Some patients succumb in infancy to respiratory

infections and pulmonary insufficiency, possibly

related to airway obstruction and abnormal

compliance

b. Majority of patients with a normal life span

5. Diagnostic criteria

a. Major features

i. Dyscephaly with beak nose and mandibular

hypoplasia

ii. Dental abnormalities

iii. Proportional short stature

iv. Hypotrichosis

v. Cutaneous atrophy

vi. Microphthalmia

vii. Congenital cataracts

b. Minor features

i. Narrow/high-arched palate

ii. Ocular features

a) Blue sclera

b) Antimongoloid palpebral fissures

c) Synechiae irides

d) Choroid atrophy

iii. Hypoplastic genitalia

iv. Musculoskeletal features

a) Elevated scapulae

b) Scoliosis

c) Lordosis

d) Hyperextensible joints

v. Mental retardation

Diagnostic Investigations

1. Radiography (Christian et al. 1991)

a. Skull

i. A large, poorly ossified skull

ii. Delayed closure of fontanelles with persis-

tent wide sutures

iii. Presence of Wormian bones

iv. Brachycephaly

v. Platybasia

vi. Depressed sella turcica

994 Hallermann-Streiff Syndrome

vii. Frontal or parietal bossing

viii. Small orbits

ix. Disproportion between the large cranial

vault and the small facial skeleton

x. Midfacial hypoplasia

a) Hypoplastic mandibular ramus

b) Possible absent condyles

c) Anteriorly displaced temporomandibu-

lar joint

d) Hypoplastic malar bones

xi. A birdlike nose

xii. Micrognathia

xiii. Dental anomalies

a) Presence of natal teeth

b) Retained decidual teeth

c) Partial anodontia

d) Supernumerary and hypoplastic teeth

e) Anterior open bite malocclusion

b. Long bones

i. Thin/gracile

ii. Retarded bone age

c. Other skeletal anomalies

i. Scaphocephaly

ii. Cervical vertebral anomalies

iii. Mild platyspondyly

iv. Scoliosis

v. Lordosis

vi. Elevated scapulae

vii. Hip dislocation

viii. Spina bifida

ix. Syndactyly

2. Overnight polysomnography to confirm obstructive

sleep apnea

3. Endocrine evaluation for hypothyroidism, hypo-

parathyroidism, or hypopituitarism

4. Chromosome study: no diagnostic cytogenetic

characteristics

Genetic Counseling

1. Recurrence risk

a. Patient’s sib: not increased

b. Patient’s offspring: not increased

2. Prenatal diagnosis: not been reported

3. Management

a. Surgery

i. Repair of cardiovascular defect

ii. Ophthalmological procedure (cataracts

removal)

iii. Rhinoplasty

iv. Facial augmentation

v. Dental surgery (Patterson et al. 1982)

a) General restorative dentistry

b) Orthodontic palatal expansion

c) Realignment of the dental arches

vi. Mandibular advancement

b. General anesthesia and airway management

i. Difficult laryngoscopy and endotracheal

intubation secondary to micrognathia,

microstomia, and serious upper airway

compromise

ii. Brittle and easily broken natal teeth during

laryngoscopy

iii. Orotracheal intubation precluded by anterior

placement or absence of the temporoman-

dibular joints

iv. Difficult nasotracheal intubation secondary to

hypoplastic nose and deviated nasal septum

v. Consider preoperative tracheotomy or pre-

pare for emergency tracheotomy

c. Long-term nasal continuous positive airway

pressure therapy for obstructive sleep apnea

(Ryan et al. 1990)

d. Management for endocrine problem if present

References

Aracena, T., & Sangueza, P. (1977). Hallermann-Streiff-

Francois syndrome. Journal of Pediatric Ophthalmology,14, 373–378.

Christian, C. L., Lachman, R. S., Aylsworth, A. S., et al. (1991).

Radiological findings in Hallermann-Streiff syndrome:

Report of five cases and a review of the literature. AmericanJournal of Medical Genetics, 41, 508–514.

Cohen, M. M., Jr. (1991). Hallermann-Streiff syndrome:

A review. American Journal of Medical Genetics, 41,488–499.

Colomb, R. S., & Porter, P. S. (1975). A distinct hair shaft

abnormality in the Hallermann-Streiff syndrome. Cutis, 16,122–128.

David, L. R., Finlon, M., Genecov, D., et al. (1999). Hallermann-

Streiff syndrome: Experience with 15 patients and review of

the literature. The Journal of Craniofacial Surgery, 10,160–168.

Dinwiddie, R., Gewitz, M., & Taylor, J. F. N. (1978). Cardiac

defects in the Hallermann-Streiff syndrome. Journal of Pedi-atrics, 92, 77–78.

Hallermann-Streiff Syndrome 995

Francois, J. (1982). Francois dysencephalic syndrome. BirthDefects, 18(6), 595–619.

Francois, J., & Pierard, J. (1971). The Francois dysencephalic

syndrome and skin manifestations. American Journal ofOphthalmology, 71, 1241–1250.

Friede, H., Lopata, M., Fisher, E., et al. (1985). Cardiorespira-

tory disease associated with Hallermann-Streiff syndrome:

Analysis of craniofacial morphology by cephalometric

roentgenograms. Journal of Craniofacial Genetics andDevelopmental Biology. Supplement, 1, 189–198.

Golomb, R. S., & Porter, P. S. (1975). A distinct hair shaft abnor-

mality in theHallermann-Streiff syndrome.Cutis, 16, 122–128.Haberman, H., & Clement, P. A. (1979). The value of anthropo-

metrical measurements in a case of Hallermann-Streiff syn-

drome. Rhinology, 17, 179–184.Haque,M., Goldenberg, D. T.,Walsh,M. K., et al. (2009). Retinal

detachments involving the posterior pole in Hallermann-

Streiff syndrome. Retinal Cases & Brief Reports, X, 1–3.Hendrix, S. L., & Sauer, H. J. (1991). Successful pregnancy in

a patient with Hallermann-Streiff syndrome. American Jour-nal of Obstetrics and Gynecology, 164, 1102–1104.

Hutchinson, D. (1971). Oral manifestations of oculomandibulo-

dyscephaly with hypotrichosis (Hallermann-Streiff syn-

drome). Oral Surgery, Oral Medicine, and Oral Pathology,31, 234–244.

Malde, A. D., Jagtap, S. R., & Pantvaidya, S. H. (1994).

Hallermann-Streiff syndrome: Airway problems during

anaesthesia. Journal of PostgraduateMedicine, 40, 216–218.Nevin, N. C., Scally, B. G., Thomas, P., et al. (1974). The

Hallermann-Streiff syndrome. Journal of Mental DeficiencyResearch, 18, 145–151.

Ohishi, M., Murakami, E., Haita, T., et al. (1986). Hallermann-

Streiff syndrome and its oral implications. ASDC Journal ofDentistry for Children, 53, 32–37.

Patterson, G. T., Braun, T. W., & Sotereanos, G. C. (1982).

Surgical correction of the dentofacial abnormality in

Hallermann-Streiff syndrome. Journal of Oral and Maxillo-facial Surgery, 40, 380–384.

Ryan, C. F., Lowe, A. A., & Fleetham, J. A. (1990). Nasal

continuous positive airway pressure (CPAP) therapy for

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Clinical Pediatrics (Philadelphia), 29, 122–124.Salbert, B. A., Stevens, C. A., & Spence, J. E. (1991).

Tracheomalacia in Hallermann-Streiff syndrome. AmericanJournal of Medical Genetics, 41, 521–523.

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Scheuerle, A. (1999). Commentary on Hallermann-Streiff Syn-

drome: Experience with 15 patients and review of the liter-

ature. The Journal of Craniofacial Surgery, 10, 225.Sclaroff, A., & Eppley, B. L. (1987). Evaluation and surgical

correction of the facial skeletal deformity in Hallermann-

Streiff syndrome. International Journal of Oral and Maxil-lofacial Surgery, 16, 738–744.

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ties in oculomandibulodyscephaly (Hallermann-Streiff syn-

drome). Journal of Oral Pathology, 13, 147–154.Spaepen, A., Schrander-Stumpel, C., Fryns, J. P., et al. (1991).

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a

b

Fig. 1 (a, b) An infant with Hallermann-Streiff syndrome

showing brachycephaly, frontal and parietal bossing,

microphthalmia, thin, pointed nose, mandibular hypoplasia,

and hypotrichosis

b

a

Fig. 2 (a, b) A male infant with Hallermann-Streiff syndrome

showing frontal bossing, microphthalmia, thin nose, mandibular

hypoplasia, hypotrichosis involving eyelashes and eyebrows,

and genital hypoplasia

Hallermann-Streiff Syndrome 997

baFig. 3 (a, b) An adult with

Hallermann-Streiff syndrome

with mental retardation, short

stature, alopecia, scanty

eyelashes, a beaked nose, and

scoliosis

998 Hallermann-Streiff Syndrome