Delleman Oorthuys Syndrome

Multiple congenital anomaly syndrome mainly affecting the central nervous system (CNS), eyes, and skin.

Delleman Syndrome; Oculocerebrocutaneous (OCC) Syndrome; Orbital Cyst with Cerebral and Focal Dermal Malformations.

Approximately 30 cases have been described. Males are affected approximately 2.5 times more often than females.

Most cases are sporadic and may result from mutation of a lethal gene compatible with survival only in the mosaic state. In a few cases, transmission may be autosomal dominant with variable penetrance.

Mechanism causing the anomalies is poorly understood. Abnormal development in week 5 or 6 of gestation could explain most of the symptoms. Several authors agree that, independent of the causal factor, the pathogenetic mechanism most likely is a disruption of the anterior neuroectodermal plate leading to neurocristopathy with primary craniofacial dysmorphogenesis.

The most common features of Delleman syndrome are orbital cysts, microphthalmia/anophthalmia, focal hypoplastic skin defects, skin appendages, and cerebral malformations. The triad of ocular, cutaneous, and cerebral features is considered characteristic for the syndrome, with the ocular findings being the most typical and consistent. However, the minimal diagnostic criteria for Delleman syndrome include CNS cysts or hydrocephalus, orbital cysts or microphthalmia, and focal skin defects. To differentiate this syndrome from encephalocraniocutaneous lipomatosis, orbital cysts and agenesis of the corpus callosum are the most reliable signs.

CNS anomalies may include agenesis/hypoplasia of the corpus callosum, hydrocephalus, porencephaly, Dandy-Walker malformation, cerebral atrophy, arachnoid cysts, encephalocele, and meningocele. Pathologic changes affecting the eye are anophthalmia/microphthalmia and colobomata of eyelids and iris. Skin anomalies include auricular tags, periorbital cysts, pedunculated, hamartomatous (most often periorbital) skin appendages, café au lait spots, and focal dermal hypoplasia. Psychomotor retardation and seizures have been reported in most patients. Midline cleft lip/palate and bifid/fused ribs can be seen occasionally.

Syndrome may go unrecognized, so silent neuroectodermal abnormalities may be present. Therefore consider CNS imaging in patients with facial skin tags and orbital cysts. Assess neurodevelopment and seizure control. Ask about previous episodes suggestive of aspiration pneumonia and obtain a chest radiograph if in doubt.

Airway management will be difficult in the presence of severe hydrocephalus and other anomalies, such as a high arched palate. Watch for seizure activity under anesthesia, which may manifest as unexpected autonomic changes. Muscle relaxants may mask seizure activity. Seizures may be the cause of slow emergence from anesthesia and predispose the patient to pulmonary aspiration. Postoperative apneic episodes may be a sign of seizures, and apnea monitoring might be useful. In a case report of anesthesia in a 2-month-old child with the syndrome, no perioperative problems other than a suboptimal view on direct laryngoscopy were reported.

Be aware of interactions with anticonvulsant drugs. Avoid potentially epileptogenic drugs.

Encephalocraniocutaneous Lipomatosis: This disease is now considered to be a variant of Proteus syndrome, which is a congenital hamartomatous disorder characterized by partial gigantism (hands and feet, macrodactyly), hemihypertrophy, macrocephaly, scoliosis, exostoses, and nevi.

There is phenotypic overlap in terms of eye and skin signs with

Goldenhar Syndrome: Common birth defect of vascular origin involving first and second branchial arch derivatives resulting mainly in facial and vertebral anomalies.

Adams-Oliver Syndrome (AOS): Very rare inherited disorder characterized by defects of the scalp associated with multiple scarred and hairless areas that usually have dilated blood vessel directly under the skin. Scalp defects are present at birth. The extremities are either short (hypoplastic fingers and toes) or characterized by absent hands and lower legs. Congenital heart defect must be ruled out.

Aplasia Cutis Congenita: Most often inherited disorder with circumscribed or more extensive skin lesions that may also involve underlying tissues. Neurologic and cardiac anomalies have been described in these patients.

Cutis Marmorata Telangiectatica Congenita: Congenital cutaneous disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Often reported in association with a variety of other congenital anomalies.

Epidermal Nevus Syndrome: Genetically transmitted neurodermatosis characterized by epidermal nevi, odontodysplasia, mental retardation, and various malformations.

Epidermolysis Bullosa: Group of inherited bullous disorders characterized by blister formation in response to mechanical trauma.

Johanson-Blizzard Syndrome (JBS): Polymalformative syndrome characterized by nasal alar hypoplasia (beak-shaped), scalp defects, hypothyroidism, pancreatic achylia, and congenital deafness.

Goltz Syndrome: Complex mesoectodermal hereditary disorder characterized by focal dermal atrophy with herniation of fat producing multiple papillomas, in association with a skeletal, dental, ocular, and other anomalies.

Setleis Syndrome: Puckered periorbital skin, absent or multiple rows of eyelashes.

Streeter Anomaly: Constricting amniotic bands leading to amputation with scarring, distal syndactyly, cleft lip/palate, anencephaly, encephalocele, hydrocephaly, omphalocele, and gastroschisis. Other internal anomalies involve the heart, lungs, diaphragm, kidneys, and gonads.