[MIM 210 600, 600 546, 606 744, 608 664, 613 676, 613 823]

(bird head dwarfism, nanocephalic dwarfism , primordial or type I microcephalic dwarfism,  primordial osteodysplastic dwarfism)

Very rare. Osteodysplastic dwarfism with microcephaly. Genetic polymorphism: autosomal recessive transmission of a mutation in the SCKL1 gene on 3q 22.1-q24 ( ataxia-telangiectasia gene, linked to rad3), of the SCKL2 gene on 18p11.31-q11.2 or the SCKL3 gene in 14q23. The proteins coded by these genes insure the stability of the DNA

There are four morphological criteria:

(1) congenital harmonious dwarfism by intrauterine and postnatal growth retardation,

(2) microcephaly, sometimes craniosynostosis.

(3) facial dysmorphism: narrow face with prominent beak-like nose, microretrognathism, protruding beady eyes, large and protruding ears, dental malocclusion

(4) mental retardation.

Hematological abnormalities are frequent: anemia, pancytopenia, acute myeloid leukemia.

Possibly ssociated: cleft lip palate, scoliosis or kyphoscoliosis, cardiac abnormalities, hip dysplasia, moderate glycoregulation disorders.

Anesthetic implications:

check total blood count. Risk of difficult intubation. Cases of laryngeal stenosis. The endotracheal tube size should be best determined according to weight rather than to age.

References : 

• Rajamani A, Kamat V, Murthy J, Hussain SA. 
  Anesthesia for cleft lip surgery in a child with Seckel syndrome : a case report. 
  Pediatr Anesth 2005; 15: 338-41.
• Gürkan Y, Hosten T, Dayioglu H, Toker K, Solak M. 
  Anesthesia for Seckel syndrome. 
  Pediatr Anesth 2006 ; 16 : 359-60.
• Arora S, Ghai B, Rattan V. 
  Anesthetic management of a child with Seckel syndrome for multiple extractions and restoration of teeth. 
  J Anaesth Clin Pharmacol 2012; 28:398-9.

Updated: September 2018