Robinow Syndrome

Also Known As:

Acral Dysostosis with Facial and Genital Abnormalities; Fetal Face Syndrome; Mesomelic Dwarfism-Small Genitalia Syndrome; Robinow Dwarfism; Robinow Syndrome, Autosomal Dominant; Robinow-Silverman-Smith Syndrome

Networked: 29 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Robinow Syndrome: 29
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Robinow Syndrome: 29
  - Congenital Limb Deformities: 8
    - Robinow Syndrome: 29
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Urogenital Abnormalities: 76
    - Robinow Syndrome: 29
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Robinow Syndrome: 29
    - Congenital Limb Deformities: 8
      - Robinow Syndrome: 29
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Robinow Syndrome: 29
Endocrine System Diseases: 968
- Dwarfism: 1191
  - Robinow Syndrome: 29
Urogenital Diseases: 126

Related Diseases

1.	Respiratory Sounds (Crackle)
2.	Type B1 Brachydactyly
3.	Brachydactyly
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)

Experts

1.	Brunner, Han G: 3 articles (01/2018 - 01/2010)
2.	Mazzeu, Juliana F: 3 articles (01/2018 - 01/2010)
3.	Mundlos, Stefan: 3 articles (11/2008 - 12/2006)
4.	Stricker, Sigmar: 3 articles (11/2008 - 12/2006)
5.	Ali, Bassam R: 2 articles (12/2019 - 11/2007)
6.	Minami, Yasuhiro: 2 articles (04/2019 - 02/2003)
7.	Baylor-Hopkins Center for Mendelian Genomics: 2 articles (01/2018 - 03/2016)
8.	Bayram, Yavuz: 2 articles (01/2018 - 03/2016)
9.	Carvalho, Claudia M B: 2 articles (01/2018 - 03/2016)
10.	Gezdirici, Alper: 2 articles (01/2018 - 03/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Robinow Syndrome:

1.	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 01/01/2010 - "The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations in the orphan tyrosine kinase receptor, ROR2, which has recently been identified as a putative WNT5A receptor. " 04/01/2019 - "Mutations in the human receptor tyrosine kinase ROR2 are associated with Robinow syndrome (RRS) and brachydactyly type B1. " 11/01/2008 - "Mutations in the receptor tyrosine kinase Ror2 account for Brachydactyly type B and Robinow Syndrome. " 12/01/2006 - "Ror2 is a receptor tyrosine kinase mutated in the human syndromes Brachydactyly type B (BDB) and recessive Robinow syndrome (RS). " 12/31/2019 - "Mutations in FZ-CRD of Frizzled class receptor 4 (FZD4) and Muscle, skeletal, receptor tyrosine kinase (MuSK) and Receptor tyrosine kinase-like orphan receptor 2 (ROR2) cause Familial Exudative Vitreoretinopathy (FEVR), Congenital Myasthenic Syndrome (CMS), and Robinow Syndrome (RS) respectively. "
2.	bis(diazo)benzidine (BDB)IBA 10/01/2000 - "The BDB phenotype, as well as the location and the nature of the BDB mutations, suggests a specific mutational effect that cannot be explained by simple haploinsufficiency and that is distinct from that in Robinow syndrome." 05/01/2008 - "The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome." 03/26/2008 - "This problem has particular importance because mutations in ROR2 are associated with two human skeletal dysmorphology syndromes, recessive Robinow Syndrome (RS) and dominant acting Brachydactyly type B (BDB). " 02/01/2003 - "In humans, mutations within Ror2 have been found in two genetic skeletal disorders, recessive Robinow syndrome and dominant Brachydactyly type B (BDB), further emphasizing critical functions of Ror2 during developmental morphogenesis. " 05/01/2008 - "Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant brachydactyly type B (BDB, MIM 113000) or recessive Robinow syndrome (RRS, MIM 268310). "
3.	Growth Hormone (Somatotropin)IBA 12/01/2023 - "Robinow syndrome and its response to growth hormone treatment: a case report and review of the literature." 07/01/1999 - "Robinow syndrome with growth hormone deficiency: treatment with growth hormone." 01/01/1997 - "We report on a 10-year-old Japanese girl with Robinow syndrome accompanied by partial growth hormone (GH) insufficiency. " 01/01/1997 - "A case of Robinow syndrome accompanied by partial growth hormone insufficiency treated with growth hormone." 11/01/1998 - "We present the characteristic features of 14 children with the recessive form of Robinow syndrome and the growth hormone (GH) response to provocation with clonidine and the serum insulin-like growth factor-I (IGF-I) concentration in 12 of these children. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2018 - "These data support an initial hypothesis that Robinow syndrome results from perturbation of the Wnt/PCP pathway, suggest specific relevant domains of the proteins involved, and reveal key contributors in this signaling cascade during human embryonic development. " 01/01/2018 - "The data demonstrate that mutant DVL3 proteins associated with Robinow syndrome show truncation of the C-terminus and share 83 novel amino acid residues before the stop codon confirming highly specific DVL3 alterations to be associated with this syndrome. " 03/30/2022 - "By interacting with seven proteins so far, namely disheveled (DVL), protein phosphatase 2A (PP2A), phosphofructokinase-1 (PFK1), translocation protein SEC63 homolog (SEC63), myeloid differentiation primary response gene-88 (MYD88), flightless-I (FLII), and calcium/calmodulin-dependent protein kinase II type alpha (CAMK2A), NXN is involved in the regulation of several key cellular processes, including proliferation, organogenesis, cell cycle progression, glycolysis, innate immunity and inflammation, motility, contraction, protein transport into the endoplasmic reticulum, neuronal plasticity, among others; as a result, NXN has been implicated in different pathologies, such as cancer, alcoholic and polycystic liver disease, liver fibrogenesis, obesity, Robinow syndrome, diabetes mellitus, Alzheimer's disease, and retinitis pigmentosa. "
5.	Nonsense Codon (Nonsense Mutation)IBA 03/01/2018 - "Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes." 03/03/2016 - "Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of DVL1 and resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediated decay. "
6.	Vitamin K Epoxide ReductasesIBA 09/01/2010 - "Of the 24 patients, 8 met the specific diagnostic characteristics of BP. All 8 patients were evaluated in the genetics clinic at University of Iowa Children's Hospital, having diagnoses of vitamin K epoxide reductase deficiency, Xp22.3 deletion with chondrodysplasia punctata, Stickler syndrome, fetal warfarin syndrome, Robinow syndrome, and unknown etiology. "
7.	Receptor Tyrosine Kinase-like Orphan ReceptorsIBA 12/31/2019 - "Mutations in FZ-CRD of Frizzled class receptor 4 (FZD4) and Muscle, skeletal, receptor tyrosine kinase (MuSK) and Receptor tyrosine kinase-like orphan receptor 2 (ROR2) cause Familial Exudative Vitreoretinopathy (FEVR), Congenital Myasthenic Syndrome (CMS), and Robinow Syndrome (RS) respectively. "
8.	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 03/30/2022 - "By interacting with seven proteins so far, namely disheveled (DVL), protein phosphatase 2A (PP2A), phosphofructokinase-1 (PFK1), translocation protein SEC63 homolog (SEC63), myeloid differentiation primary response gene-88 (MYD88), flightless-I (FLII), and calcium/calmodulin-dependent protein kinase II type alpha (CAMK2A), NXN is involved in the regulation of several key cellular processes, including proliferation, organogenesis, cell cycle progression, glycolysis, innate immunity and inflammation, motility, contraction, protein transport into the endoplasmic reticulum, neuronal plasticity, among others; as a result, NXN has been implicated in different pathologies, such as cancer, alcoholic and polycystic liver disease, liver fibrogenesis, obesity, Robinow syndrome, diabetes mellitus, Alzheimer's disease, and retinitis pigmentosa. "
9.	Calcium-Calmodulin-Dependent Protein KinasesIBA 03/30/2022 - "By interacting with seven proteins so far, namely disheveled (DVL), protein phosphatase 2A (PP2A), phosphofructokinase-1 (PFK1), translocation protein SEC63 homolog (SEC63), myeloid differentiation primary response gene-88 (MYD88), flightless-I (FLII), and calcium/calmodulin-dependent protein kinase II type alpha (CAMK2A), NXN is involved in the regulation of several key cellular processes, including proliferation, organogenesis, cell cycle progression, glycolysis, innate immunity and inflammation, motility, contraction, protein transport into the endoplasmic reticulum, neuronal plasticity, among others; as a result, NXN has been implicated in different pathologies, such as cancer, alcoholic and polycystic liver disease, liver fibrogenesis, obesity, Robinow syndrome, diabetes mellitus, Alzheimer's disease, and retinitis pigmentosa. "
10.	Testosterone (Sustanon)FDA Link 11/01/1998 - "During childhood and early adolescence, boys with Robinow syndrome had low basal testosterone and a low testosterone response to HCG stimulation (3,000 IU/m2/d intramuscularly [IM] for 3 days). "

Therapies and Procedures

1.	Anesthesia 02/01/2003 - "[Anesthesia and fibrobronchoscopy for the study of chronic stridor in a boy with Robinow syndrome]."
2.	Therapeutics 01/01/1997 - "Our observations suggest that the indication of GH therapy for patients with Robinow syndrome needs careful consideration." 12/01/1990 - "Since early recognition of this type of heart lesion can minimize morbidity by facilitating optimal surgical therapy, thorough cardiac evaluation of all patients with Robinow syndrome seems warranted." 11/01/1998 - "Four weeks of HCG therapy (2,500 IU/m2 IM twice weekly) in three boys with Robinow syndrome increased the penile length and testicular volume, denoting a significant Leydig cell response to prolonged HCG stimulation and the presence of functioning androgen receptors. "
3.	Operative Surgical Procedures 09/01/2003 - "The authors present an 8-year-old boy, previously diagnosed with Robinow syndrome, who was admitted for an emergency surgical procedure. "
4.	Artificial Respiration (Mechanical Ventilation) 01/01/2014 - "Respiratory failure in Robinow syndrome was treated with non-invasive mechanical ventilation for the first time."
5.	Critical Care (Surgical Intensive Care) 01/01/2022 - "An extremely preterm infant presented with clinical and radiological features of Robinow syndrome including butterfly vertebrae, posterior rib fusion, brachydactyly, nail hypoplasia, and retromicrognathia resulting in difficult endotracheal intubation in the intensive care setting. "