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Talipes calcaneovalgus

MedGen UID:
56270
Concept ID:
C0152237
Anatomical Abnormality
Synonyms: Acquired Adult Flatfoot Deformity; Calcaneovalgus, Talipes; Flatfoot, Flexible; Flexible Flatfoot; Talipes Calcaneovalgus
SNOMED CT: Talipes calcaneovalgus (299466008); Calcaneovalgus deformity of foot (299466008)
 
HPO: HP:0001884

Definition

Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. [from HPO]

Term Hierarchy

Conditions with this feature

Smith-Lemli-Opitz syndrome
MedGen UID:
61231
Concept ID:
C0175694
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.
Autosomal recessive multiple pterygium syndrome
MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
Oculomaxillofacial dysostosis
MedGen UID:
333072
Concept ID:
C1838348
Disease or Syndrome
Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by Dasouki et al., 1988).
Neurodegeneration with brain iron accumulation 2B
MedGen UID:
346658
Concept ID:
C1857747
Disease or Syndrome
PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.
Arthrogryposis, renal dysfunction, and cholestasis 1
MedGen UID:
347219
Concept ID:
C1859722
Disease or Syndrome
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
Brachydactyly type A4
MedGen UID:
354669
Concept ID:
C1862139
Congenital Abnormality
A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.
Arthrogryposis, renal dysfunction, and cholestasis 2
MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).
Charcot-Marie-Tooth disease type 1E
MedGen UID:
501212
Concept ID:
C3495591
Disease or Syndrome
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the <i>PMP22</i> (17p12) gene. The disease severity depends on the particular <i>PMP22</i> mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
Intellectual disability-hypotonic facies syndrome, X-linked, 1
MedGen UID:
1676827
Concept ID:
C4759781
Disease or Syndrome
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.

Recent clinical studies

Etiology

Yamamoto K, Ohashi K, Fujimoto M, Ieda D, Nakamura Y, Hattori A, Kaname T, Ieda K, Nishino I, Saitoh S
Brain Dev 2022 Sep;44(8):578-582. Epub 2022 May 6 doi: 10.1016/j.braindev.2022.04.006. PMID: 35527075
Borte M, Raffac S, Hrubiško M, Jahnz-Rozyk K, Garcia E, McCoy B, Chavan S, Nagy A, Yel L
Immunotherapy 2022 Jun;14(8):609-616. Epub 2022 Apr 20 doi: 10.2217/imt-2021-0336. PMID: 35443783
Håberg Ø, Foss OA, Lian ØB, Holen KJ
Bone Joint J 2020 Nov;102-B(11):1582-1586. doi: 10.1302/0301-620X.102B11.BJJ-2020-0290.R3. PMID: 33135434Free PMC Article
Paton RW, Choudry Q
J Bone Joint Surg Br 2009 May;91(5):655-8. doi: 10.1302/0301-620X.91B5.22117. PMID: 19407302
Nunes D, Dutra MG
Braz J Med Biol Res 1986;19(1):59-62. PMID: 3801727

Diagnosis

Yamamoto K, Ohashi K, Fujimoto M, Ieda D, Nakamura Y, Hattori A, Kaname T, Ieda K, Nishino I, Saitoh S
Brain Dev 2022 Sep;44(8):578-582. Epub 2022 May 6 doi: 10.1016/j.braindev.2022.04.006. PMID: 35527075
Håberg Ø, Foss OA, Lian ØB, Holen KJ
Bone Joint J 2020 Nov;102-B(11):1582-1586. doi: 10.1302/0301-620X.102B11.BJJ-2020-0290.R3. PMID: 33135434Free PMC Article
Yoshioka M, Morisada N, Toyoshima D, Yoshimura H, Nishio H, Iijima K, Takeshima Y, Uehara T, Kosaki K
Brain Dev 2018 Apr;40(4):343-347. Epub 2017 Dec 19 doi: 10.1016/j.braindev.2017.12.001. PMID: 29273277
Paton RW, Choudry Q
J Bone Joint Surg Br 2009 May;91(5):655-8. doi: 10.1302/0301-620X.91B5.22117. PMID: 19407302
Edwards ER, Menelaus MB
J Bone Joint Surg Br 1987 Mar;69(2):330-4. doi: 10.1302/0301-620X.69B2.3818770. PMID: 3818770

Therapy

Borte M, Raffac S, Hrubiško M, Jahnz-Rozyk K, Garcia E, McCoy B, Chavan S, Nagy A, Yel L
Immunotherapy 2022 Jun;14(8):609-616. Epub 2022 Apr 20 doi: 10.2217/imt-2021-0336. PMID: 35443783

Prognosis

Yamamoto K, Ohashi K, Fujimoto M, Ieda D, Nakamura Y, Hattori A, Kaname T, Ieda K, Nishino I, Saitoh S
Brain Dev 2022 Sep;44(8):578-582. Epub 2022 May 6 doi: 10.1016/j.braindev.2022.04.006. PMID: 35527075
Faraj AA
J Foot Ankle Surg 1995 May-Jun;34(3):319-21. doi: 10.1016/S1067-2516(09)80067-7. PMID: 7550199

Clinical prediction guides

Paton RW, Choudry Q
J Bone Joint Surg Br 2009 May;91(5):655-8. doi: 10.1302/0301-620X.91B5.22117. PMID: 19407302
Lapunzina P, Camelo JS, Rittler M, Castilla EE
J Pediatr 2002 Feb;140(2):200-4. doi: 10.1067/mpd.2002.121696. PMID: 11865271
Paulozzi LJ, Lary JM
Teratology 1999 Nov;60(5):265-71. doi: 10.1002/(SICI)1096-9926(199911)60:5<265::AID-TERA7>3.0.CO;2-H. PMID: 10525204

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