IllnessWiedemann-Steiner syndrome, differential diagnosis

NGS +

The rare Wiedemann-Steiner syndrome includes distinct facial features (dense eyebrows, telecanthus, narrow eyelid crevices), growth retardation and intellectual deficit. Conspicuous are hypertrichosis, especially hairy elbows and back, unspecific nutritional disorders, skeletal abnormalities (craniovertebral malformations), behavioral problems and seizures. The syndrome is caused by pathogenic variants in the KMT2A gene, rarely inherited autosomal dominantly. The family history is usually empty, as new mutations are often present. The DNA-diagnostic yield is not known because of the rare occurrence. Therefore, an inconspicuous genetic finding does not exclude a suspected clinical diagnosis.

(Basic diagnostic gene: ###; additional genes: ###)

Reference: https://www.nature.com/articles/s41431-020-0679-8

https://doi.org/10.1002/ajmg.a.61859

• Alias: Hairy elbows, short stature, facial dysmorphism + developmental delay (KMT2A)
• Alias: Wiedemann-Steiner Syndrom (KMT2A)
• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Epileptic encephalopathy, early infantile, 85, with/-out midline brain defects (SMC1A)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Meningioma, familial, susceptibility to (SMARCE1)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Allelic: Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
• Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 10 (SOX4)
• Coffin-Siris syndrome 2 (ARID1A)
• Coffin-Siris syndrome 3 (SMARCB1)
• Coffin-Siris syndrome 4 (SMARCA4)
• Coffin-Siris syndrome 5 (SMARCE1)
• Coffin-Siris syndrome 6 (ARID2)
• Coffin-Siris syndrome 7 (DPF7)
• Coffin-Siris syndrome 8 (SMARCC2)
• Coffin-Siris syndrome 9 (SOX11)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Intell. disability, microcephaly, abnormal heart morphology, abnormal face [panelapp] (BRD4)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mungan syndrome (RAD21)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 6 (NRAS)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• Suleiman-El-Hattab syndrome: developmental delay, microcephaly, dysmorphic features (TASP1)