Ectrodactyly

An autosomal dominant limb malformation disorder involving the central rays of the autopod and presenting with SYNDACTYLY, median clefts of the hands and feet, and aplasia and/or hypoplasia of the FINGER PHALANGES and/or TOE PHALANGES; METACARPALS, and METATARSALS. Some patients with SHFM1 have been found to have INTELLECTUAL DISABILITY, ectodermal and craniofacial findings, orofacial clefting and SENSORINEURAL HEARING LOSS. Mutations have been mapped to the chromosome 7q21.3 region, which includes the DSS1, DLX5, and DLX6 genes. OMIM: 183600

Also Known As:

Networked: 99 relevant articles (3 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Ectodermal Dysplasia (Aplasia Cutis Congenita)
2.	Teratogenesis
3.	Cleft Lip (Harelip)
4.	Syndactyly (Polysyndactyly)
5.	Prognathism

Experts

1.	Collins, Michael D: 6 articles (10/2010 - 01/2006)
2.	Lee, Grace S: 4 articles (10/2010 - 01/2006)
3.	Zhou, Huiqing: 3 articles (01/2021 - 07/2011)
4.	van Bokhoven, Hans: 3 articles (12/2018 - 08/2009)
5.	Liao, Xiaoyan: 3 articles (10/2010 - 01/2006)
6.	Shimizu, Hirohito: 3 articles (10/2010 - 06/2007)
7.	Dötsch, Volker: 2 articles (01/2021 - 07/2011)
8.	Barbaro, Vanessa: 2 articles (08/2016 - 01/2012)
9.	Di Iorio, Enzo: 2 articles (08/2016 - 01/2012)
10.	Ferrari, Stefano: 2 articles (08/2016 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ectrodactyly:

1.	Acetazolamide (Diamox)FDA LinkGeneric 06/01/1984 - "In the present study administration of CdSO4 and acetazolamide in combination to either strain of mice potentiates the incidence of forelimb ectrodactyly. " 11/01/1997 - "Postaxial forelimb ectrodactyly induced by acetazolamide given on Day 9.5 of murine gestation is thought to be mediated by reduced intracellular pH (pHi) within the limb bud. " 06/01/1993 - "Penetrance or the frequency of embryos with any degree of forelimb ectrodactyly is the usual method to describe the forelimb ectrodactyly response of mouse embryos to acetazolamide. " 06/01/1993 - "Penetrance and expressivity of acetazolamide-ectrodactyly provide a method to define a right-left teratogenic gradient that differs between the C57BL/6J and WB/ReJ mouse strains." 07/01/1991 - "This overdominance of relative resistance to acetazolamide ectrodactyly supports the general finding of directional dominance of relative resistance among genetically different strain pairs. "
2.	Phenylephrine (Neo-Synephrine)FDA LinkGeneric 08/01/1987 - "We have demonstrated previously that phenylephrine, a selective postsynaptic alpha-1-adrenergic agonist, significantly potentiates the incidence of acetazolamide-induced right forelimb ectrodactyly in a dose-response manner. " 10/01/1986 - "Coadministration of the selective alpha-1-adrenergic agonist phenylephrine significantly increased the incidence of acetazolamide-induced right forelimb ectrodactyly while failing to induce the lesion when administered alone. " 10/01/1986 - "In addition, treatment with either phenoxybenzamine or prazosin in the absence of stimulation with phenylephrine significantly decreased the incidence of acetazolamide-induced ectrodactyly. " 10/01/1986 - "Pretreatment with the alpha-adrenergic antagonists phenoxybenzamine and prazosin prevented the phenylephrine-induced increase in right forelimb ectrodactyly. "
3.	Prazosin (Minipress)FDA LinkGeneric 10/01/1986 - "In addition, treatment with either phenoxybenzamine or prazosin in the absence of stimulation with phenylephrine significantly decreased the incidence of acetazolamide-induced ectrodactyly. " 10/01/1986 - "Pretreatment with the alpha-adrenergic antagonists phenoxybenzamine and prazosin prevented the phenylephrine-induced increase in right forelimb ectrodactyly. "
4.	PhenoxybenzamineFDA Link 10/01/1986 - "In addition, treatment with either phenoxybenzamine or prazosin in the absence of stimulation with phenylephrine significantly decreased the incidence of acetazolamide-induced ectrodactyly. " 10/01/1986 - "Pretreatment with the alpha-adrenergic antagonists phenoxybenzamine and prazosin prevented the phenylephrine-induced increase in right forelimb ectrodactyly. "
5.	Ointments (Pastes)IBA 09/01/2008 - "Low dose lipid base ointment application may be a promising treatment modality for the ocular surface disease in ectrodactyly-ectodermal dysplasia (EEC)-clefting syndrome, which seems to help in alleviating the subjective complaints and in improving the objective clinical findings."
6.	LipidsIBA 09/01/2008 - "Low dose lipid base ointment application may be a promising treatment modality for the ocular surface disease in ectrodactyly-ectodermal dysplasia (EEC)-clefting syndrome, which seems to help in alleviating the subjective complaints and in improving the objective clinical findings."
7.	CadmiumIBA 10/01/2010 - "Because both atRA and divalent cadmium induce postaxial forelimb ectrodactyly (right-sided predominance) at a high rate in C57BL/6 and low in the SWV strain, there is debate as to whether they share a common mechanism. " 01/01/2006 - "When mice were exposed to subthreshold doses of both cadmium (0.5 mg/kg) and RA (1 mg/kg), the combined treatment exceeded the threshold, resulting in forelimb ectrodactyly in 19% of the fetuses. " 01/01/2006 - "When RA was given simultaneously with cadmium, a significant increase in the incidence and severity of forelimb ectrodactyly (predominantly postaxial) was observed compared to the results with corresponding doses of cadmium or RA alone. " 03/01/2005 - "Cadmium-induced postaxial forelimb ectrodactyly: association with altered sonic hedgehog signaling." 11/01/2000 - "Amelioration of cadmium-induced forelimb ectrodactyly by CAFF was seen in both the high-dose cadmium (HDCd = 65.4%, HDCd+CAFF = 39.2%) and medium-dose cadmium (MDCd = 46.2%, MDCd+ CAFF = 20.8%) treatment groups (P < 0.025). "
8.	Proteins (Proteins, Gene)FDA Link 05/01/2015 - "Additionally, a literature review allowed us to conclude that KAL1 protein at high levels may interfere with FGFR1 signaling activity, most probably indirectly giving rise to ectrodactyly, intellectual disability, and genital anomalies. " 11/01/2020 - "Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). " 10/01/2012 - "The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. " 02/01/2011 - "Ectrodactyly-ectodermal dysplasia-clefting syndrome, the result of a mutation in the gene encoding tumor protein p63, causes ocular surface disease. " 12/01/2008 - "Three genes were selected for this investigation: TP63, which codes for the tumour protein p63 and causes Ectrodactyly-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for Opitz syndrome. "
9.	Tretinoin (Retinoic Acid)FDA LinkGeneric 02/01/2006 - "The goals of this study were to characterize and explain the differences between the C57BL/6N and SWV mouse strains in terms of all-trans-retinoic acid (RA)-induced teratologic effects at the time of gestation that cause postaxial forelimb ectrodactyly. " 06/01/2007 - "Maternal exposure to excess levels of all-trans-retinoic acid (RA) at gestational day 9.5 induces postaxial ectrodactyly (digit loss) in the murine C57BL/6N strain but not in the SWV/Fnn strain. " 06/01/2007 - "Altered localization of gene expression in both ectoderm and mesoderm is associated with a murine strain difference in retinoic acid-induced forelimb ectrodactyly." 01/01/1984 - "Retinoic acid treatment induced micromelia (with the elimination of several long bones at higher doses) and digital defects (ectrodactyly and syndactyly) in a dose-dependent manner in fetuses examined on day 17. " 11/15/2007 - "Cadmium chloride (CdCl(2)) and all-trans-retinoic acid (RA) induce postaxial forelimb ectrodactyly in C57BL/6N mice when administered during early limb development, and co-administration yields a synergistic response suggesting a common final pathway to the defect. "
10.	Caffeine (No Doz)FDA LinkGeneric 11/01/2000 - "Bilateral expression of ectrodactyly was also decreased in the presence of caffeine. " 09/01/1991 - "Both frequency and severity of ectrodactyly were potentiated by caffeine. " 02/01/1987 - "Major foetal abnormalities, mainly ectrodactyly, were seen only in the group given 100 mg caffeine/kg in a single daily dose." 01/01/1970 - "[Ectrodactyly caused by caffeine in rodents. " 11/01/2000 - "This study provides evidence that a subteratogenic dose of caffeine can ameliorate cadmium-induced forelimb ectrodactyly in the Cd-sensitive C57BL/6J inbred mouse strain."

Therapies and Procedures

1.	Dacryocystorhinostomy 01/01/2013 - "This case suggests that endo-dacryocystorhinostomy seems to be a safe and effective procedure, both as revision and as first procedure, even in children with ectrodactyly-ectodermal dysplasia." 01/01/2013 - "Endonasal dacryocystorhinostomy in a pediatric patient with ectrodactyly-ectodermal dysplasia after failure of external dacryocystorhinostomy and as first procedure."
2.	Aftercare (After-Treatment) 01/01/1988 - "Ectrodactyly was the predominant effect after treatment on day 11. " 04/01/1981 - "Specific long bone reductions occurred after treatment on the 11th or 11.5 day and were accompanied by preaxial polydactyly; treatment on the 12th or 12.5 day produced high incidence of ectrodactyly but no long bone reductions. "
3.	Salpingectomy 12/17/2018 - "A 28- year-old nulliparous woman previously diagnosed for HWWS associated with ectrodactyly of the right foot and with a history of abdominal left hemi-hysterectomy, ipsilateral salpingectomy, vaginal reconstruction when she was an adolescent. "
4.	Limb Salvage 09/01/2013 - "Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly)."
5.	Therapeutics 08/01/2016 - "Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome."