The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. [thejns.org]

Low birth weight may be present. Other clinical features include retrognathia, a narrow face, and dysplastic ears. Mental retardation may also be present. It is inherited as an autosomal recessive transmission. [accessanesthesiology.mhmedical.com]

Standard Therapies Treatment Medical treatment for Seckel syndrome is based on the specific problems that are present in the affected child. [rarediseases.org]

Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. [hal.archives-ouvertes.fr]

63 (CEP63) gene Seckel syndrome 7: ninein (NIN) gene Seckel syndrome 8: DNA 2 protein (DNA2) gene Seckel syndrome 9: ATR interacting protein (ATRIP) gene Seckel syndrome 10: SMC5-SMC6 complex SUMO ligase (NSMCE2) gene [1][3] Characteristics/Clinical Presentation [physio-pedia.com]

• 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. [jmg.bmj.com]

  stature 31 very rare (1%) HP:0004322 7 intrauterine growth retardation 31 very rare (1%) HP:0001511 8 micrognathia 31 very rare (1%) HP:0000347 9 narrow face 31 very rare (1%) HP:0000275 10 long face 31 very rare (1%) HP:0000276 11 protruding ear 31 [malacards.org]

  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]

  Seckel syndrome: A birth defect syndrome with severe 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. [rxlist.com]

  It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. [cambridge.org]

• Anemia

  Therapeutic and Medical management mostly focuses on treating associated hematological abnormalities (anemia, pancytopenia, acute myeloid leukaemia) and providing appropriate social support and counselling services for the individual and the family. [physio-pedia.com]

  Hematological problems such as leukemia and anemia can be treated with appropriate medication and therapy. Mentally challenged individuals along with their families need to be given appropriate social support and counseling services. [medindia.net]

  A low level of red blood cells is known as anemia. Causes Seckel syndrome is rare genetic disorder that is inherited in an autosomal recessive pattern. [rarediseases.org]

  […] developmental anomalies or syndromes LD24 Syndromes with skeletal anomalies as a major feature H00992 Seckel syndrome Related pathway hsa04110 Cell cycle hsa03030 DNA replication hsa04115 p53 signaling pathway hsa03440 Homologous recombination hsa03460 Fanconi anemia [genome.jp]

• Macrotia

  CORIORETINICA (AUTOSOMICA DOMINANTE) RN0020 MICROCEFALIA ISOLATA O SINDROMICA MICROCEFALIA CON GIRIA CORTICALE SEMPLIFICATA RN0020 MICROCEFALIA ISOLATA O SINDROMICA MICROCEFALIA CON LINFEDEMA RN0020 MICROCEFALIA ISOLATA O SINDROMICA MICROCEFALIA CON MACROTIA [malattierare.regione.veneto.it]

• Small Head

  Seckel syndrome has been called "bird-headed dwarfism" (a descriptive term that has come to be regarded as pejorative). Inside the small head, unfortunately, there is a very small brain. [rxlist.com]

  This growth delay continues into childhood and results in dwarfism, and a very small stature. Other physical features of the syndrome include a very small head, receding forehead, large ears, low set ears, a protruding nose and small chin. [fdna.health]

  Seckel syndrome may be suspected if a fetus has a small head (microcephaly), slow growth or features of the head and face (craniofacial) associated with Seckel syndrome. [rarediseases.org]

  Seckel syndrome is suspected if a fetus has a small head, slow growth, and changes to the head and face associated with the condition. [physio-pedia.com]

  Symptoms / Clinical Features of Seckel Syndrome Clinical features of Seckel syndrome include the following: The circumference of the head is small for the age of the infant. [medindia.net]

• 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. [jmg.bmj.com]

  Seckel syndrome: A birth defect syndrome with severe 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. [rxlist.com]

• 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]

  Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose. [thejns.org]

  beaked nose Skeletal Feet: club feet Neurologic Central Nervous System: enlarged ventricular system developmental delay, mild to moderate simplified gyri reduced cerebral cortex Respiratory Lung: recurrent severe infections asthma (rare) Cardiovascular [malacards.org]

• Global Developmental Delay

  Human phenotypes related to Seckel Syndrome 9: 31 (show all 27) # Description HPO Frequency HPO Source Accession 1 asthma 31 occasional (7.5%) HP:0002099 2 pulmonary artery hypoplasia 31 occasional (7.5%) HP:0004971 3 global developmental delay 31 very [malacards.org]

All mitotic cells in Figure 3 have been obtained following 24 h treatment with 1.5 µM nocodazole, the same treatment used to examine for NF cells. Figure 4. [academic.oup.com]

The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. [thejns.org]

Without a codified etiological treatment, a psychotherapist support, a genetic counseling, a regular pediatric follow-up, a quarterly odontostomatological and ophthalmological follow- up have been recommended. [mdpi.com]

Treatment for Seckel Syndrome The disorders observed in Seckel syndrome range from structural deformities to blood disorders. Hematological problems such as leukemia and anemia can be treated with appropriate medication and therapy. [medindia.net]

Without a codified etiological treatment, a psychotherapist support, a genetic counseling, a regular pediatric follow-up, a quarterly odontostomatological and ophthalmological follow- up have been recommended. [mdpi.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]

USA, 98, 9092 –9097. 36 Chan, T.A., Hermeking, H., Lengauer, C., Kinzler, K.W. and Vogelstein, B. ( 1999 ) 14‐3-3Sigma is required to prevent mitotic catastrophe after DNA damage. [academic.oup.com]