Seckel syndrome (SS) is a hereditary autosomal recessive disease. It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly. This disorder affects both males and females equally.
Seckel syndrome has various forms, hence it shows a heterogeneous presentation . Inherited in an autosomal recessive pattern, SS occurs through a mutation of one of the several genes, such as the retinoblastoma binding protein 8 (RBBP8) and centromere protein J (CENPJ) genes. It is recognized as part of a wider spectrum of autosomally recessive microcephalies . SS has no preponderance for either sex and is not restricted to, or more common in, any particular geographical areas. Its incidence rate is estimated to be less than one in 1 million births.
The main features involve intrauterine growth restriction, microcephaly, continued growth impairment after birth leading to dwarfism, and skeletal abnormalities. A myriad of other characteristics has been described.
In addition to a reduced head circumference, patients have typical dysmorphic facial features which include narrow jaws and have been described to have a 'bird head' appearance. Cleft palate and high arched palate have been reported  . Dental abnormalities such as poor enamel production, smaller and fewer teeth, and dental crowding, are common  . The range of skeletal abnormalities, in addition to short stature, is broad and may include clinodactyly, bone dislocations (affecting the head of the femur), anomalies of limb, and spinal deformities such as kyphosis.
Further systemic pathology has been associated with the syndrome, such as gastrointestinal, cardiovascular and ocular symptoms. There are also several central nervous system manifestations, for example, malformation of certain brain structures such as the cerebral cortex. A significant proportion of patients, as many as 15%, suffer from anemia, pancytopenia, leukemia or other forms of hematopathology . They are prone to kidney and upper respiratory tract infections.
Entire Body System
- Short Stature
Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking [ncbi.nlm.nih.gov]
Osteodysplastic Bird-Headed Dwarfism Type III (Osteodysplastic Primordial Dwarfism Type III): Characterized by short stature, microcephaly, and a “beak-like” nose. Retrognathia, a narrow face, receding forehead, and alopecia have been reported. [accessanesthesiology.mhmedical.com]
- Proportionate Short Stature
Abstract Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. [zora.uzh.ch]
A homozygous nonsense mutation was identified in CEP63 in a consanguineous family of Pakistani descent with three members with primary microcephaly and proportionate short stature, clinically consistent with mild Seckel syndrome. [dnatesting.uchicago.edu]
Hennekam, R.; Allanson, J.; and Krantz, I. (2011) "Proportionate short stature syndromes." Gorlin's Syndromes of the Head and Neck. Oxford, England: Oxford University Press:440-80. [rarediseases.about.com]
- Dysmorphic Face
face (bird-like), and mild to severe intellectual disability. [orpha.net]
A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult.  Dental malocclusion, receding chin, high palatal arch could be the warning signs for the possibility of difficult intubation.  Although [joacp.org]
- Single Transverse Palmar Crease
transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Strabismus Cross-eyed [rarediseases.info.nih.gov]
- Delayed Growth and Development
Common features include a cleft in the lip or palate, abnormal facial features, limb or skeletal abnormalities, intellectual disability and delayed growth and development. [centogene.com]
- High Pitched Voice
She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles. [termedia.pl]
pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed [rarediseases.info.nih.gov]
Jaw & Teeth
- Selective Tooth Agenesis
tooth agenesis 0001592 Single transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight less than 10th percentile Low birth weight [ [rarediseases.info.nih.gov]
- Severe Short Stature
One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. [ncbi.nlm.nih.gov]
short stature and, characteristically, low birth weight, very small head (microcephaly), receding forehead, large eyes, low ears, prominent beaklike protrusion of the nose, and smallish chin. [medicine.academic.ru]
Retrognathia, a narrow face, receding forehead, and alopecia have been reported. Some affected individuals may exhibit skeletal deformities. It is inherited as an autosomal recessive transmission. [accessanesthesiology.mhmedical.com]
Affected individuals displayed telangiectases, alopecia, and other malignancies such as nonmelanoma skin cancer, and less commonly breast cancer and cervical cancer. [preventiongenetics.com]
標題 トップオーサー 頁数 序文 黒木 良和 1 第II編 各論 1 ichthyosis 金 慶彰 5 2 ichthyosis-cheek-eyebrow syndrome 金 慶彰 7 3 ichthyosis-coloboma-heart defect-deafness-mental retardation 金 慶彰 8 4 IFAP syndrome(ichthyosis follicularis, alopecia, and photophobia syndrome) 金 慶彰 [nippon-rinsho.co.jp]
[…] with mental retardation syndrome type 2 PIGO Hyperphosphatasia with mental retardation syndrome type 3 PGAP2 Hyperphosphatasia with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia [centogene.com]
- Cafe-Au-Lait Spots
[…] dental arches [ more ] 0000689 Dislocated radial head 0003083 Elbow flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait [rarediseases.info.nih.gov]
Face, Head & Neck
- Beaked Nose
It is clinically characterized by many features including: intrauterine growth restriction postnatal growth delay microcephaly 7 intellectual disability facial dysmorphisms micrognathia recessed forehead large beaked nose It is considered a type of primordial [radiopaedia.org]
This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. [ncbi.nlm.nih.gov]
Seck·el syn·drome ( sek'ĕl ), [MIM*210600] an autosomal recessive disorder characterized by low birth weight, dwarfism, microcephaly, large eyes, beaked nose, receding mandible, and moderate mental retardation. [medical-dictionary.thefreedictionary.com]
- Narrow Face
Other characteristic facial features include abnormally large eyes, micrognathia, retrognathia, a narrow face, and low-set ears. Affected children may exhibit mental retardation. [accessanesthesiology.mhmedical.com]
Other features of SCKL include microcephaly (small head) with intellectual disability, unique facial features such as large eyes, narrow face, “beak-like” protrusion of the nose, and receding lower jaw. There are often skeletal bone abnormalities. [secure.ssa.gov]
Other facial features may include abnormally large eyes, a narrow face, malformed ears and an unusually small jaw. This syndrome has an autosomal recessive pattern of inheritance. A case of the Seckel syndrome is presented. [ncbi.nlm.nih.gov]
The findings include: very small at birth (average birth weight is 1,540 g or about 3.3 pounds) extremely small proportionate stature (dwarfism) very small head (microcephaly) "beak-like" protrusion of the nose narrow face malformed ears unusually small [walkingwithgiants.org]
- Bird-like Facies
Seckel syndrome is an autosomal recessive disorder characterized by severe intrauterine growth retardation, microcephalic bird-like facies, and a mental retardation. [go.gale.com]
Most children with Seckel syndrome are "friendly and pleasant" but "often hyperkinetic (hyperactive) and easily distracted." This disease is genetic. It is inherited in an autosomal recessive manner. [medicinenet.com]
Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148 High palate Elevated palate Increased palatal height [ more ] 0000218 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hyperactivity [rarediseases.info.nih.gov]
- Global Developmental Delay
developmental delay 0011342 Narrow face Decreased breadth of face Decreased width of face [ more ] 0000275 Prematurely aged appearance Precociously senile appearance 0007495 Sandal gap Gap between 1st and 2nd toes Gap between first and second toe Increased [rarediseases.info.nih.gov]
There are several tools used in the workup of SS, including clinical assessment.
A diagnosis may be made prenatally, via ultrasound in the second trimester, by identifying intrauterine growth restriction (IUGR). A series of ultrasound scans can be conducted, making the technique more effective in detecting abnormalities in the bone structure and facial features .
On presentation during childhood, the examination is carried out by noting anthropometric measurements, including head circumference, height, and weight. Evaluation of the morphology of the pelvic bones and femur is also useful.
Other methods include:
- Imaging of the skeletal system: This is to assess delayed bone maturation and deformities .
- Magnetic resonance imaging (MRI) scan of the brain: Malformations may be visualized.
- Analysis of neurocognitive and motor abilities, as well as neurological examination.
- Electroencephalogram (EEG): Monitoring for seizures.
- Delayed Bone Age
It is associated with webbed toes, nondescended testicles, hypospadias, weak muscle tone, and delayed bone age. The heights of individuals in Russell-Silver and Meier-Gorlin syndrome exceed when compared to other primordial dwarfism. Seckel syndrome [go.gale.com]
Other characteristics include microcephaly, mild to moderate mental retardation, characteristic narrow bird-like face with a beak-like nose, large eyes, micrognathia, delayed bone age, hip dysplasia, and elbow dislocation (Faivre et al. 2002). [preventiongenetics.com]
Serum levels of immunoreactive IGF-1, bioactive IGF-1, and IGF-binding protein 3 were all within normal to high range before GH treatment and increased after GH treatment. Fasting plasma ghrelin remained severely reduced. [ncbi.nlm.nih.gov]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
The main features of the syndrome, technical problems encountered during surgery and the prognosis of this condition are discussed. [ncbi.nlm.nih.gov]
Forms and Documents Test Details Clinical Utility: Molecular confirmation of a clinical diagnosis Establish the type of microcephaly and cause in order to provide information regarding prognosis, management and recurrence risk. [genedx.com]
The prognosis depends on the defects presented, but for the delay in growth and impaired mental development, is considered poor. Genetic counseling of parents is essential for prevention and support. [medigraphic.com]
This integrated partnership has contributed to the improvement of procedures aimed at the diagnosis, prognosis and intervention of individuals with genetic syndromes and communication disorders as early as possible. [scielo.br]
Look at other dictionaries: Virchow-Seckel syndrome — (also known as bird headed dwarfism, Harper s syndrome or Seckel dwarfism) is a syndrome of unknown etiology, characterized by intrauterine growth retardation and postnatal dwarfism with a small head [medicine.academic.ru]
Discussion and conclusion: Recognizing and giving multidisciplinary follow-up will help to know the etiology of the disease, as well as its evolution, management and genetic counseling. [go.gale.com]
Etiology[edit | edit source] Seckel Syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. Listed below are multiple variations of Seckel Syndrome caused by gene mutations on multiple chromosomes. [physio-pedia.com]
Multicentre study, aiming to determine morphological and epidemiological parameters and identify new symptoms in French patients with SCKL or MOPDII. [clinicaltrials.gov]
Ishemichna khvoroba sertsia: epidemiolohiia i statystyka [Coronary heart disease: epidemiology and statistics]. Zdorovia Ukrainy, 3, 34–35. [in Ukrainian]. Barna, O. M., Yarema, N. I., & Bazylevych, A. Ya. (2009). [zmj.zsmu.edu.ua]
Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]
Patofiziolohichni ta klinichni paraleli IKhS ta osteoporozu [Pathophysiological and clinical coronary heart disease and osteoporosis parallel]. Liky Ukrainy, 3(129), 43–46. [in Ukrainian]. Gavisova, A. A., Tverdikova M. A., & Yakushevskaya O. [zmj.zsmu.edu.ua]
Malignant hypertension may play an important role in the aetiology of the aneurysm and early detection is essential in order to prevent organ damage. we report a new case of Seckel syndrome associated with malignant hypertension and cerebral haemorrhage [ncbi.nlm.nih.gov]
The material is waterproof and insures good defence against corrosion preventing any water and oxygen from coming in contact with chassis. Added mineral fillers assure safety for human health and environment. [xwave.one]
Genetic counseling of parents is essential for prevention and support. Key words: Seckel-Like syndrome, psychomotor retardation, congenital malformation. REFERENCIAS Leonidas-Padilla R, Osear-González A. [medigraphic.com]
- Faivre L, Cormier-Daire V. Orphanet encyclopedia. Seckel Syndrome. https://www.orpha.net/data/patho/GB/uk-Seckel(05).pdf. Published July 2001. Updated April 2005. Accessed May 17, 2017.
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- Seymen F, Tuna B, Kayserili H. Seckel syndrome: Report of a case. J Clin Pediatr Dent. 2002;26(3):305-309.
- Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T. Craniofacial morphology, dentition and skeletal maturity in four siblings with Seckel syndrome. Cleft Palate Craniofac J. 2001;38(6):645-651.
- De Coster PJ, VerbeecK RM, Holthaus V, Martens LC, Vral A. Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: A new variant? J Oral Pathol Med. 2006;35(10):639-641.
- Elalaoui SC, Mariam T, Ilham R, Yassamine D, Abdelaziz S. A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review. Indian J Hum Genet. 2011;17(2):97-99.
- Chanan-Khan A, Holkova B, Perle MA, et al. T-cell clonality and myelodysplasia without chromosomal fragility in a patient with features of Seckel syndrome. Haematologica 2003;88(5):ECR14.
- De Elejalde MM, Elejalde BR. Visualisation of the fetal face by ultrasound. J Craniofac Genet Dev Biol. 1984;4(4):251-257.
- Poznanski AK, Iannaccone G, Pasquino AM, Boscherini B. Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism). Pediatr Radiol. 1983;13(1):19–24.