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At a glance

A very rare familial bipolar syndrome characterized by short stature and resulting from growth hormone deficiency. Affected individuals have microcephaly, cleft lip/palate, ocular hypertelorism, and deformities of the thumbs (hypoplasia), syndactyly of the toes, and hypoplasia of the limbs.


Oro-Cranio-Digital Syndrome; Cranio-Oro-Digital Syndrome; Digital-Oro-Cranio Syndrome; Cleft Lip/Palate with Abnormal Thumbs and Microcephaly Syndrome.


Approximately 10 cases of Orocraniodigital Syndrome have been reported in the medical literature. The symptoms are usually obvious at birth.

Genetic inheritance

It is suspected that it is an autosomal recessive inheritance trait.

Clinical aspects

Patients have short stature and mental retardation. Syndrome involves head (cleft lip/palate, microcephaly, hypertelorism, broad nose, bowed and upward-slanting eyebrows, and ptosis), skeleton (hypoplastic stiff and distally placed thumbs, brachydactyly, limited elbow extension, anomalous carpal bones, deformity of radial heads, toe anomalies, and vertebral and rib anomalies). Other features include horseshoe kidneys, micropenis, and anterior anal displacement. Laboratory investigations show growth hormone deficiency.

Anesthetic considerations

Ventilation with a face mask might be complicated due to the presence of large cleft lip and palate. Also, direct laryngoscopy and tracheal intubation can be challenging for the same reason. The airway must be preoperatively assessed to ensure that an unexpected difficult airway management. The presence of proper size laryngeal mask airway (LMA) must be available at all times in case of complications. It is recommended to maintain spontaneous ventilation until the trachea is intubated and ventilation of the lungs confirmed. Avoid neck extension. Careful intraoperative positioning is needed. Venous access on superior limb can be difficult.

Other conditions to be considered

  • Fetal Aminopterin Syndrome: Teratogenic syndrome caused by maternal intake of aminopterin or methotrexate. It is characterized by growth failure, craniofacial deformities, hydrocephalus, mental retardation, and skeletal defects.

  • Malpuech Syndrome (Malpuech Facial Clefting Syndrome; Gypsy Type Facial Clefting Syndrome): A malformative syndrome characterized by hypertelorism, facial clefting, urogenital abnormalities, severe growth failure, the presence of a caudal appendage (human tail), and mental retardation. Other features include urogenital abnormalities. Cardiac anomalies have been reported. The syndrome was described by G. Malpuech et al in 1983 on four children from a Gypsy family. Malpuech Syndrome is part of a spectrum of medical conditions termed “3MC Syndrome,” in which the initials of three investigators are referred: Malpuech, Michels, and Mingarelli-Carnevale. It is part of a group of Obstructive Sleep Apnea (OSA) Syndromes.

  • Craniofrontonasal Dysplasia: Rare inherited disorder characterized by ocular hypertelorism, splitted appearance of the tip of the nose and broad nasal bridge, and/or malformation of the sternum. Other features include an unusually wide mouth, syndactyly, split nails, broad index finger, dysplastic ears, and a broad high forehead. An autosomal dominant genetic trait inheritance is ...

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