Presentation
Congenital absence of upper arm and forearm with hand present GARD:0012124 ! Macrophage activation syndrome Orphanet:158061 ! Macrophage activation syndrome GARD:0012133 ! Nodding syndrome MESH:D064128 ! Nodding Syndrome GARD:0012138 ! [github.com]
Entire Body System
- Multiple Congenital Anomalies
Virchows Arch 72:69–91 und Tafel 1 Google Scholar Patau K, et al. (1960) Multiple congenital anomalies by an extra autosome. [link.springer.com]
congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic [bionity.com]
[…] chemical sensitivity multiple congenital anomalies-hypotonia-seizures syndrome + Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability Multiple Hamartoma Syndrome + multiple mitochondrial dysfunctions syndrome + multiple pterygium [rgd.mcw.edu]
[…] café-au-lait spots Multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B [rarediseases.info.nih.gov]
- Broad Thumb
Trigonocephaly bifid nose acral anomalies Trigonocephaly broad thumbs Trigonocephaly ptosis coloboma Trigonocephaly ptosis mental retardation Trigonomacrocephaly tibial defect polydactyly Trihydroxycholestanoylcoa oxidase isolated deficiency Trimethadione [bionity.com]
[…] deformity Thumb deformity, alopecia, pigmentation anomaly Thumb stiff brachydactyly mental retardation Thymic-Renal-Anal-Lung dysplasia Thyroid dysgenesis Tibia absent polydactyly arachnoid cyst Tietz syndrome Tight skin contracture syndrome, lethal [rarediseases.info.nih.gov]
Respiratoric
- Pharyngitis
[…] syndrome PCDH19-related female-limited epilepsy Pearson syndrome Pectus carinatum PEHO syndrome Pelger-Huet anomaly Pelvic dysplasia arthrogryposis of lower limbs Pendred syndrome Pentalogy of Cantrell Pentosuria Periodic fever, aphthous stomatitis, pharyngitis [rarediseases.info.nih.gov]
Jaw & Teeth
- Macroglossia
Reports Published: May 1981 European Journal of Pediatrics volume 136, pages 207–210 (1981)Cite this article 29 Accesses 5 Citations Metrics details Abstract A case of heptacarpo-octatarso-dactyly combined with cheilo-gnatho-palato-schisis, hypertelorism, macroglossia [link.springer.com]
[…] protein intolerance Mac Dermot Winter syndrome Macrocephaly, benign familial Macrocephaly-short stature-paraplegia syndrome Macrodactyly of the foot Macrodactyly of the hand Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance Macroglossia [rarediseases.info.nih.gov]
Neurologic
- Myelopathy
Syphilitic myelopathy DOID:10027 ! tabes dorsalis GARD:0008731 ! Syphilitic aseptic meningitis DOID:10073 ! syphilitic meningitis GARD:0008749 ! Central pontine myelinolysis DOID:636 ! central pontine myelinolysis GARD:0008761 ! [github.com]